diff --git a/docs/collections.md b/docs/collections.md index da68a6fc6..9a548379e 100644 --- a/docs/collections.md +++ b/docs/collections.md @@ -25,6 +25,9 @@ were mainly created using the Python library [pyphetools](https://github.com/mon | [SLC45A2](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/SLC45A2/SLC45A2_Moreno2022PMID_36553465.ipynb){:target="_blank"} | 30 phenopackets; [Albinism, oculocutaneous, type IV](https://omim.org/entry/606574){:target="_blank"} | | [SMARCB1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SMARCB1){:target="_blank"} | 17 phenopackets; [Coffin-Siris syndrome 3](https://omim.org/entry/614608){:target="_blank"}, [Rhabdoid tumor predisposition syndrome-1](https://omim.org/entry/609322){:target="_blank"} | | [SMARCC2](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/SMARCC2/SMARCC2_Bosch_2023_PMID_37551667.ipynb){:target="_blank"}| 60 phenopackets; [Coffin-Siris syndrome 8](https://omim.org/entry/618362){:target="_blank"} | +| [SON](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/SON/Dingemans_2022_SON_PMID_34521999.ipynb){:target="_blank"} | 52 phenopackets; [ZTTK syndrome](https://omim.org/entry/617140){:target="_blank"} | + + diff --git a/notebooks/SON/Dingemans_2022_SON_PMID_34521999.ipynb b/notebooks/SON/Dingemans_2022_SON_PMID_34521999.ipynb index 742af7fe5..01480310f 100644 --- a/notebooks/SON/Dingemans_2022_SON_PMID_34521999.ipynb +++ b/notebooks/SON/Dingemans_2022_SON_PMID_34521999.ipynb @@ -20,24 +20,19 @@ "name": "stdout", "output_type": "stream", "text": [ - "pyphetools version 0.6.3\n" + "Using pyphetools version 0.8.30\n" ] } ], "source": [ - "import phenopackets as php\n", - "from google.protobuf.json_format import MessageToDict, MessageToJson\n", - "from google.protobuf.json_format import Parse, ParseDict\n", "import pandas as pd\n", "pd.set_option('display.max_colwidth', None) # show entire column contents, important!\n", - "from collections import defaultdict\n", - "import os\n", - "import sys\n", - "import numpy as np\n", - "import pyphetools\n", + "from IPython.display import display, HTML\n", "from pyphetools.creation import *\n", "from pyphetools.visualization import *\n", - "print(f\"pyphetools version {pyphetools.__version__}\")" + "from pyphetools.validation import *\n", + "import pyphetools\n", + "print(f\"Using pyphetools version {pyphetools.__version__}\")" ] }, { @@ -45,9 +40,7 @@ "id": "8606e7eb", "metadata": {}, "source": [ - "

Importing HPO data

\n", - "

pyphetools uses the Human Phenotype Ontology (HPO) to encode phenotypic features. The recommended way of doing this is to ingest the hp.json file using HpoParser, which in turn creates an HpoConceptRecognizer object.

\n", - "

The HpoParser can accept a hpo_json_file argument if you want to use a specific file. If the argument is not passed, it will download the latext hp.json file from the HPO GitHub site and store it in a new subdirectory called hpo_data. It will not download the file if the file is already downloaded.

" + "

Importing HPO data

" ] }, { @@ -55,15 +48,25 @@ "execution_count": 2, "id": "5a7789fc", "metadata": {}, - "outputs": [], + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "HPO version 2023-10-09\n" + ] + } + ], "source": [ "parser = HpoParser()\n", "hpo_cr = parser.get_hpo_concept_recognizer()\n", "hpo_version = parser.get_version()\n", + "hpo_ontology = parser.get_ontology()\n", "PMID = \"PMID:34521999\"\n", "title = \"Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON\"\n", "metadata = MetaData(created_by=\"ORCID:0000-0002-5648-2155\", pmid=PMID, pubmed_title=title)\n", - "metadata.default_versions_with_hpo(version=hpo_version)" + "metadata.default_versions_with_hpo(version=hpo_version)\n", + "print(f\"HPO version {hpo_version}\")" ] }, { @@ -71,8 +74,7 @@ "id": "5102722a", "metadata": {}, "source": [ - "

Importing the supplemental table

\n", - "

Here, we use the pandas library to import this file (note that the Python package called openpyxl must be installed to read Excel files with pandas, although the library does not need to be imported in this notebook). pyphetools expects a pandas DataFrame as input, and users can choose any input format available for pandas include CSV, TSV, and Excel, or can use any other method to transform their input data into a Pandas DataFrame before using pyphetools.

" + "

Importing the supplemental table

" ] }, { @@ -586,7 +588,7 @@ }, { "cell_type": "code", - "execution_count": 7, + "execution_count": 5, "id": "c85c793f", "metadata": {}, "outputs": [ @@ -869,7 +871,7 @@ "[5 rows x 100 columns]" ] }, - "execution_count": 7, + "execution_count": 5, "metadata": {}, "output_type": "execute_result" } @@ -889,114 +891,23 @@ "id": "8314d6bd", "metadata": {}, "source": [ - "

Column mappers

\n", - "

Please see the notebook \"Create phenopackets from tabular data with individuals in rows\" for explanations. In the following cell we create a dictionary for the ColumnMappers. Note that the code is identical except that we use the df.loc function to get the corresponding row data

" + "

Column mappers

" ] }, { "cell_type": "code", - "execution_count": 10, + "execution_count": 6, "id": "59d9e9e8", "metadata": {}, "outputs": [], "source": [ - "column_mapper_d = defaultdict(ColumnMapper)" + "column_mapper_d = {}\n", + "# dft.columns" ] }, { "cell_type": "code", - "execution_count": 8, - "id": "122946b0", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "Index(['Gender', 'Age at examination', 'Genomic position', 'cDNA change',\n", - " 'Predicted protein effect',\n", - " 'Other genomic variants potentially contributing to the phenotype',\n", - " 'Head circumference (at birth) (HP:0011451 / HP:0004488)',\n", - " 'Head circumference (HP:0000252 / HP:0000256)',\n", - " 'Heigth (at birth) (HP:0003561 / HP:0003517)',\n", - " 'Heigth (HP:0004322 / HP:0000098)',\n", - " 'Weigth (at birth) (HP:0001518 / HP:0001520)',\n", - " 'Weigth (HP:0004325 / HP:0004324)', 'Motor delay (HP:0001270)',\n", - " 'Speech delay (HP:0000750)', 'Intellectual disability (HP:0001249)',\n", - " 'Severity of intellectual disability (HP:0001256 / HP:0002342 / HP:0010864)',\n", - " 'Abnormality of prenatal development or birth (HP:0001197)',\n", - " 'Premature birth (HP:0001622)', 'Caesarian section (HP:0011410)',\n", - " 'Abnormality of prenatal development or birth other',\n", - " 'Neurological abnormality (HP:0000707)', 'Hypotonia (HP:0001252)',\n", - " 'Seizures (HP:0001250)', 'EEG abnormality (HP:0002353)',\n", - " 'Neurological abnormality other',\n", - " 'Abnormality of the brain (HP:0002363)',\n", - " 'Abnormal cerebral ventricle morphology (HP:0002118)',\n", - " 'Ventriculomegaly (HP:0002119)',\n", - " 'Abnormality of the corpus callosum (HP:0001273)',\n", - " 'Hypoplasia of the corpus callosum (HP:0002079)',\n", - " 'Abnormality of the cerebral white matter (HP:0002500)',\n", - " 'Abnormality of the cerebellum (HP:0001317)',\n", - " 'Polymicrogyria (HP:0002126)', 'Cortical dysplasia (HP:0002539)',\n", - " 'Abnormality of the brain other', 'Behavioural problems (HP:0000708)',\n", - " 'Autism spectrum disorder or autistic behavior (HP:0000729)',\n", - " 'Sleep disturbance (HP:0002360)', 'Behavioural problems other',\n", - " 'Horizontal eyebrow (HP:0011228)', 'Facial asymmetry (HP:0000324)',\n", - " 'Midface retrusion (HP:0011800)', 'Facial (eye)',\n", - " 'Downward slanting palpebral fissures (HP:0000494)',\n", - " 'Strabismus (HP:0000486)', 'Deeply set eye (HP:0000490)',\n", - " 'Epicanthus (HP:0000286)', 'Facial (eye) other', 'Facial (mouth)',\n", - " 'Short or smooth philtrum (HP:0000322 / HP:0000319)',\n", - " 'Thin upper lip vermilion (HP:0000219)', 'Facial (mouth) other',\n", - " 'Facial (nose)', 'Abnormality of the nasal bridge (HP:0000422)',\n", - " 'Facial (nose) other', 'Facial (ear)', 'Low-set ears (HP:0000369)',\n", - " 'Posteriorly rotated ears (HP:0000358)', 'Facial (ear) other',\n", - " 'Facial other',\n", - " 'Abnormality of the musculoskeletal system (HP:0033127)',\n", - " 'Generalized joint laxity (HP:0002761)', 'Pes planus (HP:0001763)',\n", - " 'Abnormality of the curvature of the vertebral column (HP:0010674)',\n", - " 'Abnormality of the foot (HP:0001436)',\n", - " 'Abnormality of the finger (HP:0001167)',\n", - " 'Abnormality of the skull (HP:0000929)', 'Skeletal abnormality other',\n", - " 'Abnormality of the gastrointestinal tract (HP:0011024)',\n", - " 'Feeding difficulties (HP:0008872)',\n", - " 'Morphological abnormality of the gastrointestinal tract (HP:0012718)',\n", - " 'Dysphagia (HP:0002015)', 'Gastrointestinal abnormality other',\n", - " 'Cardiac abnormality (HP:0001627)',\n", - " 'Ventricular septal defect (HP:0001629)',\n", - " 'Atrial septal defect (HP:0001631)', 'Cardiac abnormality other',\n", - " 'Urogenital abnormality (HP:0000119)',\n", - " 'Abnormal renal morphology (HP:0012210)',\n", - " 'Horseshoe kidney (HP:0000085)', 'Renal cysts (HP:0000107)',\n", - " 'Urogenital abnormality other',\n", - " 'Abnormality of the skin,hair or nails (HP:0000951 / HP:0001595 / HP:0001597)',\n", - " 'Abnormality of the teeth (HP:0000164)',\n", - " 'Abnormality of the skin, hair or nails other',\n", - " 'Visual impairment (HP:0000505)', 'Hypermetropia (HP:0000540)',\n", - " 'Cortical visual impairment (HP:0100704)', 'Visual impairment other',\n", - " 'Abnormal hearing (HP:0000364)',\n", - " 'Abnormality of the immune system (HP:0002715)',\n", - " 'Recurrent otitis media (HP:0000403)',\n", - " 'Abnormality of the immunological system other',\n", - " 'Abnormality of the endocrine system (HP:0000818)',\n", - " 'Abnormality of metabolism/homeostasis (HP:0001939)',\n", - " 'Neoplasia (HP:0002664)', 'Other', 'PMID',\n", - " 'Description of the variants on genomic chromosomal level reported using NC_000021.8, and annotated based on NM_138927.2 unless indicated otherwise. Abbreviations: +, present; -, not present; NR, not reported; NA, not applicable; PMID, PubMed ID; U, unknown.',\n", - " 'patient_id'],\n", - " dtype='object', name=' ')" - ] - }, - "execution_count": 8, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "dft.columns" - ] - }, - { - "cell_type": "code", - "execution_count": 11, + "execution_count": 7, "id": "55a9ef65", "metadata": {}, "outputs": [], @@ -1010,7 +921,7 @@ }, { "cell_type": "code", - "execution_count": 10, + "execution_count": 8, "id": "9e7866a7-eb0e-40da-837d-e8eb2db9a6e3", "metadata": {}, "outputs": [], @@ -1024,7 +935,7 @@ }, { "cell_type": "code", - "execution_count": 12, + "execution_count": 9, "id": "bd78a24f", "metadata": {}, "outputs": [], @@ -1044,7 +955,7 @@ }, { "cell_type": "code", - "execution_count": 13, + "execution_count": 10, "id": "3a1e1132", "metadata": {}, "outputs": [], @@ -1064,7 +975,7 @@ }, { "cell_type": "code", - "execution_count": 14, + "execution_count": 11, "id": "88e52430", "metadata": {}, "outputs": [], @@ -1087,7 +998,7 @@ }, { "cell_type": "code", - "execution_count": 17, + "execution_count": 12, "id": "6c1dedba", "metadata": {}, "outputs": [ @@ -1095,13 +1006,13 @@ "name": "stdout", "output_type": "stream", "text": [ - "We created 42 mappers\n" + "We created 43 mappers\n" ] } ], "source": [ "hpo_term_d = {\n", - " 'Speech delay (HP:0000750)': 'Speech delay' , \n", + " 'Speech delay (HP:0000750)': 'Delayed speech and language development' , \n", " 'Intellectual disability (HP:0001249)': 'Intellectual disability',\n", " 'Premature birth (HP:0001622)':'Premature birth', \n", " 'Caesarian section (HP:0011410)':'Caesarian section',\n", @@ -1113,11 +1024,11 @@ " 'Polymicrogyria (HP:0002126)':'Polymicrogyria', \n", " 'Cortical dysplasia (HP:0002539)' : 'Cortical dysplasia',\n", " 'Autism spectrum disorder or autistic behavior (HP:0000729)': 'Autistic behavior',\n", - " 'Sleep disturbance (HP:0002360)': 'Sleep disturbance', \n", + " 'Sleep disturbance (HP:0002360)': 'Sleep abnormality', \n", " 'Horizontal eyebrow (HP:0011228)': 'Horizontal eyebrow', \n", " 'Facial asymmetry (HP:0000324)': 'Facial asymmetry',\n", " 'Midface retrusion (HP:0011800)':'Midface retrusion', \n", - " 'Downward slanting palpebral fissures (HP:0000494)':'Downward slanting palpebral fissures',\n", + " 'Downward slanting palpebral fissures (HP:0000494)':'Downslanted palpebral fissures',\n", " 'Strabismus (HP:0000486)': 'Strabismus', \n", " 'Deeply set eye (HP:0000490)': 'Deeply set eye',\n", " 'Epicanthus (HP:0000286)': 'Epicanthus', \n", @@ -1135,15 +1046,15 @@ " 'Renal cysts (HP:0000107)': 'Renal cyst',\n", " 'Visual impairment (HP:0000505)': 'Visual impairment', \n", " 'Hypermetropia (HP:0000540)': 'Hypermetropia',\n", - " 'Cortical visual impairment (HP:0100704)': 'Cortical visual impairment',\n", + " 'Cortical visual impairment (HP:0100704)': 'Cerebral visual impairment',\n", " 'Recurrent otitis media (HP:0000403)': 'Recurrent otitis media',\n", - " 'Neoplasia (HP:0002664)':'Neoplasia'\n", + " 'Neoplasia (HP:0002664)':'Neoplasm'\n", "}\n", "for k, v in hpo_term_d.items():\n", " hpo_term = hpo_cr.get_term_from_label(v)\n", " mapper = SimpleColumnMapper(hpo_id=hpo_term.id, hpo_label=hpo_term.label, observed=\"+\", excluded='-')\n", " column_mapper_d[k] = mapper\n", - "print(f\"We created {len(column_mapper_d)} mappers\")\n" + "print(f\"We created {len(column_mapper_d)} mappers\")" ] }, { @@ -1157,39 +1068,20 @@ }, { "cell_type": "code", - "execution_count": 18, + "execution_count": 13, "id": "da4d5706", "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "['c.5753_5756del' 'c.3203C>G' 'c.457del' 'c.384del' '0.19Mb deletion'\n", - " 'c.6010del' 'c.3711del' 'c.348_351del' 'c.668C>T' 'c.3334C>T'\n", - " 'c.1881_del1882' 'c.1736C>G' 'c.4018del' 'c.4678del' 'c.1444del'\n", - " 'c.394C>T' 'c.5230del' 'Whole gene deletion' 'c.4549dup' 'c.4055del '\n", - " 'c.268del' 'c.2365del' 'c.4152_4172del' 'c.3597_3598dup' 'c.6087del'\n", - " 'c.4640del' 'c.4358_4359del ' 'c.6002_6003insCC' 'c.4999_5013del'\n", - " 'c.3852_3856del' 'c.5753_5756del ' 'c.1881_1882del ' 'c.5549_5550del'\n", - " 'c.5528C>A' 'c.3073dup' 'c.286C>T' 'c.6233del' 'c.4919_4923del']\n" - ] - } - ], + "outputs": [], "source": [ "genome = 'hg38'\n", "default_genotype = 'heterozygous'\n", "SON_transcript='NM_138927.2'\n", - "vvalidator = VariantValidator(genome_build=genome, transcript=SON_transcript)\n", - "#varMapper = VariantColumnMapper(assembly=genome,column_name='cDNA change', \n", - "# transcript=transcript, default_genotype=default_genotype)\n", - "vars = dft['cDNA change'].unique()\n", - "print(vars)" + "vvalidator = VariantValidator(genome_build=genome, transcript=SON_transcript)" ] }, { "cell_type": "code", - "execution_count": 19, + "execution_count": 14, "id": "3ab7ddc0-75f9-4c2e-9e5d-0e4f72516425", "metadata": {}, "outputs": [ @@ -1279,6 +1171,7 @@ "variant_d = {}\n", "son_id = \"HGNC:11183\"\n", "structural = {\"0.19Mb deletion\",\"Whole gene deletion\"} \n", + "vars = dft['cDNA change'].unique()\n", "for v in vars:\n", " print(f\"decoding {v}\")\n", " if v in structural:\n", @@ -1304,7 +1197,7 @@ }, { "cell_type": "code", - "execution_count": 20, + "execution_count": 15, "id": "3e64dc08", "metadata": {}, "outputs": [ @@ -1354,7 +1247,7 @@ "1 2 years P2Y" ] }, - "execution_count": 20, + "execution_count": 15, "metadata": {}, "output_type": "execute_result" } @@ -1366,7 +1259,7 @@ }, { "cell_type": "code", - "execution_count": 21, + "execution_count": 16, "id": "71f664cc", "metadata": {}, "outputs": [ @@ -1416,7 +1309,7 @@ "1 Male MALE" ] }, - "execution_count": 21, + "execution_count": 16, "metadata": {}, "output_type": "execute_result" } @@ -1428,7 +1321,7 @@ }, { "cell_type": "code", - "execution_count": 22, + "execution_count": 17, "id": "f6581a8a", "metadata": {}, "outputs": [], @@ -1443,735 +1336,109 @@ " variant_mapper=varMapper, \n", " metadata=metadata,\n", " pmid=PMID)\n", - "encoder.set_disease(disease_id='OMIM:617140', label='ZTTK SYNDROME')" + "zttk = Disease(disease_id='OMIM:617140', disease_label='ZTTK SYNDROME')\n", + "encoder.set_disease(zttk)" ] }, { "cell_type": "code", - "execution_count": 23, + "execution_count": 18, "id": "fd367ed6", "metadata": {}, - "outputs": [], - "source": [ - "individuals = encoder.get_individuals()" - ] - }, - { - "cell_type": "code", - "execution_count": 24, - "id": "5d044b78", - "metadata": {}, "outputs": [ { - "name": "stdout", - "output_type": "stream", - "text": [ - "{\n", - " \"id\": \"PMID_34521999_1\",\n", - " \"subject\": {\n", - " \"id\": \"1\",\n", - " \"timeAtLastEncounter\": {\n", - " \"age\": {\n", - " \"iso8601duration\": \"P5Y\"\n", - " }\n", - " },\n", - " \"sex\": \"MALE\"\n", - " },\n", - " \"phenotypicFeatures\": [\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0004325\",\n", - " \"label\": \"Decreased body weight\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000750\",\n", - " \"label\": \"Speech delay\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0001249\",\n", - " \"label\": \"Intellectual disability\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0001622\",\n", - " \"label\": \"Premature birth\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0011410\",\n", - " \"label\": \"Caesarian section\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0001252\",\n", - " \"label\": \"Hypotonia\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0001250\",\n", - " \"label\": \"Seizure\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0002353\",\n", - " \"label\": \"EEG abnormality\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0002119\",\n", - " \"label\": \"Ventriculomegaly\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0002079\",\n", - " \"label\": \"Hypoplasia of the corpus callosum\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0002126\",\n", - " \"label\": \"Polymicrogyria\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0002539\",\n", - " \"label\": \"Cortical dysplasia\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000729\",\n", - " \"label\": \"Autistic behavior\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0002360\",\n", - " \"label\": \"Sleep disturbance\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0011228\",\n", - " \"label\": \"Horizontal eyebrow\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000324\",\n", - " \"label\": \"Facial asymmetry\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0011800\",\n", - " \"label\": \"Midface retrusion\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000494\",\n", - " \"label\": \"Downward slanting palpebral fissures\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000486\",\n", - " \"label\": \"Strabismus\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000490\",\n", - " \"label\": \"Deeply set eye\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000286\",\n", - " \"label\": \"Epicanthus\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000219\",\n", - " \"label\": \"Thin upper lip vermilion\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000369\",\n", - " \"label\": \"Low-set ears\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000358\",\n", - " \"label\": \"Posteriorly rotated ears\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0002761\",\n", - " \"label\": \"Generalized joint laxity\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0001763\",\n", - " \"label\": \"Pes planus\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0011968\",\n", - " \"label\": \"Feeding difficulties\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0002015\",\n", - " \"label\": \"Dysphagia\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0001629\",\n", - " \"label\": \"Ventricular septal defect\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0001631\",\n", - " \"label\": \"Atrial septal defect\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000085\",\n", - " \"label\": \"Horseshoe kidney\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000107\",\n", - " \"label\": \"Renal cyst\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000505\",\n", - " \"label\": \"Visual impairment\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000540\",\n", - " \"label\": \"Hypermetropia\"\n", - " }\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0100704\",\n", - " \"label\": \"Cortical visual impairment\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0000403\",\n", - " \"label\": \"Recurrent otitis media\"\n", - " },\n", - " \"excluded\": true\n", - " },\n", - " {\n", - " \"type\": {\n", - " \"id\": \"HP:0002664\",\n", - " \"label\": \"Neoplasia\"\n", - " },\n", - " \"excluded\": true\n", - " }\n", - " ],\n", - " \"interpretations\": [\n", - " {\n", - " \"id\": \"1\",\n", - " \"progressStatus\": \"SOLVED\",\n", - " \"diagnosis\": {\n", - " \"disease\": {\n", - " \"id\": \"OMIM:617140\",\n", - " \"label\": \"ZTTK SYNDROME\"\n", - " },\n", - " \"genomicInterpretations\": [\n", - " {\n", - " \"subjectOrBiosampleId\": \"1\",\n", - " \"interpretationStatus\": \"CAUSATIVE\",\n", - " \"variantInterpretation\": {\n", - " \"variationDescriptor\": {\n", - " \"id\": \"var_BJtOByVtdlPmCnhnbayeSvUlm\",\n", - " \"geneContext\": {\n", - " \"valueId\": \"HGNC:11183\",\n", - " \"symbol\": \"SON\"\n", - " },\n", - " \"expressions\": [\n", - " {\n", - " \"syntax\": \"hgvs.c\",\n", - " \"value\": \"NM_138927.2:c.5753_5756del\"\n", - " },\n", - " {\n", - " \"syntax\": \"hgvs.g\",\n", - " \"value\": \"NC_000021.9:g.33554984_33554987del\"\n", - " }\n", - " ],\n", - " \"vcfRecord\": {\n", - " \"genomeAssembly\": \"hg38\",\n", - " \"chrom\": \"chr21\",\n", - " \"pos\": \"33554981\",\n", - " \"ref\": \"CAGTT\",\n", - " \"alt\": \"C\"\n", - " },\n", - " \"moleculeContext\": \"genomic\",\n", - " \"allelicState\": {\n", - " \"id\": \"GENO:0000135\",\n", - " \"label\": \"heterozygous\"\n", - " }\n", - " }\n", - " }\n", - " }\n", - " ]\n", - " }\n", - " }\n", - " ],\n", - " \"metaData\": {\n", - " \"created\": \"2023-09-30T23:24:28.275751829Z\",\n", - " \"createdBy\": \"ORCID:0000-0002-5648-2155\",\n", - " \"resources\": [\n", - " {\n", - " \"id\": \"geno\",\n", - " \"name\": \"Genotype Ontology\",\n", - " \"url\": \"http://purl.obolibrary.org/obo/geno.owl\",\n", - " \"version\": \"2022-03-05\",\n", - " \"namespacePrefix\": \"GENO\",\n", - " \"iriPrefix\": \"http://purl.obolibrary.org/obo/GENO_\"\n", - " },\n", - " {\n", - " \"id\": \"hgnc\",\n", - " \"name\": \"HUGO Gene Nomenclature Committee\",\n", - " \"url\": \"https://www.genenames.org\",\n", - " \"version\": \"06/01/23\",\n", - " \"namespacePrefix\": \"HGNC\",\n", - " \"iriPrefix\": \"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/\"\n", - " },\n", - " {\n", - " \"id\": \"omim\",\n", - " \"name\": \"An Online Catalog of Human Genes and Genetic Disorders\",\n", - " \"url\": \"https://www.omim.org\",\n", - " \"version\": \"January 4, 2023\",\n", - " \"namespacePrefix\": \"OMIM\",\n", - " \"iriPrefix\": \"https://www.omim.org/entry/\"\n", - " },\n", - " {\n", - " \"id\": \"so\",\n", - " \"name\": \"Sequence types and features ontology\",\n", - " \"url\": \"http://purl.obolibrary.org/obo/so.obo\",\n", - " \"version\": \"2021-11-22\",\n", - " \"namespacePrefix\": \"SO\",\n", - " \"iriPrefix\": \"http://purl.obolibrary.org/obo/SO_\"\n", - " },\n", - " {\n", - " \"id\": \"hp\",\n", - " \"name\": \"human phenotype ontology\",\n", - " \"url\": \"http://purl.obolibrary.org/obo/hp.owl\",\n", - " \"version\": \"2023-09-01\",\n", - " \"namespacePrefix\": \"HP\",\n", - " \"iriPrefix\": \"http://purl.obolibrary.org/obo/HP_\"\n", - " }\n", - " ],\n", - " \"phenopacketSchemaVersion\": \"2.0\",\n", - " \"externalReferences\": [\n", - " {\n", - " \"id\": \"PMID:34521999\",\n", - " \"reference\": \"https://pubmed.ncbi.nlm.nih.gov/34521999\",\n", - " \"description\": \"Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON\"\n", - " }\n", - " ]\n", - " }\n", - "}\n" - ] + "data": { + "text/html": [ + "

Cohort validation

\n", + "

Errors found with 49 of 52 phenopackets.

\n", + "\n", + "\n", + "\n", + "\n", + "\n", + "
Error counts
LevelError categoryCount
WARNINGREDUNDANT80
INFORMATIONNOT_MEASURED174
\n", + "

A total of 254 issues were fixed and no individual was removed from the cohort.

" + ], + "text/plain": [ + "" + ] + }, + "metadata": {}, + "output_type": "display_data" } ], "source": [ - "i1 = individuals[0]\n", - "phenopacket1 = i1.to_ga4gh_phenopacket(metadata=metadata.to_ga4gh())\n", - "json_string = MessageToJson(phenopacket1)\n", - "print(json_string)" + "individuals = encoder.get_individuals()\n", + "cvalidator = CohortValidator(cohort=individuals, ontology=hpo_ontology, min_hpo=1, allelic_requirement=AllelicRequirement.MONO_ALLELIC)\n", + "qc = QcVisualizer(ontology=hpo_ontology, cohort_validator=cvalidator)\n", + "display(HTML(qc.to_summary_html()))" ] }, { "cell_type": "code", - "execution_count": 25, - "id": "b56928d7-9e8f-4fa1-93b8-2a74713b9734", + "execution_count": 19, + "id": "5d044b78", "metadata": {}, "outputs": [ { "data": { "text/html": [ - "\n", - "\n", + "
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52 phenopackets - PMID:34521999 (n=52)
IndividualDiseaseGenotypePhenotypic features
1 (MALE; P5Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Decreased body weight (HP:0004325); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Sleep disturbance (HP:0002360); Downward slanting palpebral fissures (HP:0000494); Thin upper lip vermilion (HP:0000219); Low-set ears (HP:0000369); Posteriorly rotated ears (HP:0000358); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Visual impairment (HP:0000505); Hypermetropia (HP:0000540)
2 (MALE; P2Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Seizure (HP:0001250); EEG abnormality (HP:0002353); Sleep disturbance (HP:0002360)
3 (FEMALE; P2Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Primary microcephaly (HP:0011451); Birth length less than 3rd percentile (HP:0003561); Short stature (HP:0004322); Small for gestational age (HP:0001518); Speech delay (HP:0000750); Hypotonia (HP:0001252); Sleep disturbance (HP:0002360); Downward slanting palpebral fissures (HP:0000494); Strabismus (HP:0000486); Low-set ears (HP:0000369)
4 (FEMALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.3203C>G (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, moderate (HP:0002342); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Seizure (HP:0001250); EEG abnormality (HP:0002353); Ventriculomegaly (HP:0002119); Downward slanting palpebral fissures (HP:0000494); Strabismus (HP:0000486); Epicanthus (HP:0000286); Feeding difficulties (HP:0011968)
5 (MALE; P9Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.457del (heterozygous)Short stature (HP:0004322); Increased body weight (HP:0004324); Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Seizure (HP:0001250); EEG abnormality (HP:0002353); Ventriculomegaly (HP:0002119); Sleep disturbance (HP:0002360); Downward slanting palpebral fissures (HP:0000494); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Renal cyst (HP:0000107); Visual impairment (HP:0000505); Hypermetropia (HP:0000540)
6 (FEMALE; P15Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.384del (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Seizure (HP:0001250); EEG abnormality (HP:0002353); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Sleep disturbance (HP:0002360); Strabismus (HP:0000486); Feeding difficulties (HP:0011968); Visual impairment (HP:0000505)
7 (MALE; P7Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - ":0> (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, moderate (HP:0002342); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Autistic behavior (HP:0000729); Downward slanting palpebral fissures (HP:0000494); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Horseshoe kidney (HP:0000085); Visual impairment (HP:0000505); Hypermetropia (HP:0000540)
8 (MALE; P3Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.6010del (heterozygous)Speech delay (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Seizure (HP:0001250); Sleep disturbance (HP:0002360)
9 (FEMALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.3711del (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, mild (HP:0001256); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Caesarian section (HP:0011410); Sleep disturbance (HP:0002360); Strabismus (HP:0000486); Epicanthus (HP:0000286); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); Ventricular septal defect (HP:0001629); Recurrent otitis media (HP:0000403)
10 (MALE; P2Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.6010del (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, moderate (HP:0002342); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Seizure (HP:0001250); EEG abnormality (HP:0002353); Sleep disturbance (HP:0002360); Downward slanting palpebral fissures (HP:0000494); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761)
11 (FEMALE; P11Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Intellectual disability, mild (HP:0001256); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Posteriorly rotated ears (HP:0000358)
12 (MALE; P14Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.348_351del (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Caesarian section (HP:0011410); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Downward slanting palpebral fissures (HP:0000494); Posteriorly rotated ears (HP:0000358); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Visual impairment (HP:0000505)
13 (FEMALE; P27Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Sleep disturbance (HP:0002360); Posteriorly rotated ears (HP:0000358); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Feeding difficulties (HP:0011968)
14 (MALE; P13Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Intellectual disability, mild (HP:0001256); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Ventriculomegaly (HP:0002119); Midface retrusion (HP:0011800); Strabismus (HP:0000486); Feeding difficulties (HP:0011968); Visual impairment (HP:0000505); Hypermetropia (HP:0000540)
15 (FEMALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.668C>T (heterozygous)Hypotonia (HP:0001252)
16 (MALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.3334C>T (heterozygous)Speech delay (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Strabismus (HP:0000486); Epicanthus (HP:0000286); Posteriorly rotated ears (HP:0000358); Generalized joint laxity (HP:0002761); Ventricular septal defect (HP:0001629); Atrial septal defect (HP:0001631); Visual impairment (HP:0000505)
17 (FEMALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.1881_1882del (heterozygous)Short stature (HP:0004322); Small for gestational age (HP:0001518); Decreased body weight (HP:0004325); Intellectual disability, moderate (HP:0002342); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Seizure (HP:0001250); EEG abnormality (HP:0002353); Sleep disturbance (HP:0002360); Midface retrusion (HP:0011800); Low-set ears (HP:0000369); Horseshoe kidney (HP:0000085); Visual impairment (HP:0000505)
18 (MALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.1736C>G (heterozygous)Decreased body weight (HP:0004325); Speech delay (HP:0000750); Epicanthus (HP:0000286)
19 (MALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.4018del (heterozygous)Small for gestational age (HP:0001518); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Strabismus (HP:0000486); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); Horseshoe kidney (HP:0000085); Renal cyst (HP:0000107); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); Recurrent otitis media (HP:0000403)
20 (FEMALE; P5Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.4678del (heterozygous)Intellectual disability (HP:0001249)
21 (FEMALE; P15Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.1444del (heterozygous)Intellectual disability, moderate (HP:0002342); Intellectual disability (HP:0001249); Caesarian section (HP:0011410); Seizure (HP:0001250); Midface retrusion (HP:0011800); Strabismus (HP:0000486); Ventricular septal defect (HP:0001629); Atrial septal defect (HP:0001631)
22 (FEMALE; P13Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.394C>T (heterozygous)Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability (HP:0001249); Hypoplasia of the corpus callosum (HP:0002079); Horizontal eyebrow (HP:0011228); Thin upper lip vermilion (HP:0000219); Low-set ears (HP:0000369)
23 (MALE; P13Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Caesarian section (HP:0011410); Hypotonia (HP:0001252); Epicanthus (HP:0000286); Posteriorly rotated ears (HP:0000358); Feeding difficulties (HP:0011968)
24 (MALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5230del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Epicanthus (HP:0000286); Low-set ears (HP:0000369); Feeding difficulties (HP:0011968); Horseshoe kidney (HP:0000085)
25 (MALE; P10Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - ":0> (heterozygous)Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability, severe (HP:0010864); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Cortical dysplasia (HP:0002539); Strabismus (HP:0000486); Generalized joint laxity (HP:0002761); Visual impairment (HP:0000505); Hypermetropia (HP:0000540)
26 (MALE; P10Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Short stature (HP:0004322); Small for gestational age (HP:0001518); Decreased body weight (HP:0004325); Intellectual disability, moderate (HP:0002342); Intellectual disability (HP:0001249); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Pes planus (HP:0001763); Feeding difficulties (HP:0011968)
27 (FEMALE; P10Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); Atrial septal defect (HP:0001631); Renal cyst (HP:0000107)
28 (MALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.4549dup (heterozygous)Short stature (HP:0004322); Intellectual disability, moderate (HP:0002342); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Strabismus (HP:0000486); Pes planus (HP:0001763); Feeding difficulties (HP:0011968)
29 (MALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.4055del (heterozygous)Intellectual disability, moderate (HP:0002342); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Atrial septal defect (HP:0001631); Renal cyst (HP:0000107); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); Recurrent otitis media (HP:0000403)
30 (MALE; P1Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.268del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Atrial septal defect (HP:0001631); Visual impairment (HP:0000505); Hypermetropia (HP:0000540)
31 (MALE; P7Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.3334C>T (heterozygous)Intellectual disability, severe (HP:0010864); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Cortical dysplasia (HP:0002539); Autistic behavior (HP:0000729); Strabismus (HP:0000486); Pes planus (HP:0001763); Feeding difficulties (HP:0011968)
32 (MALE; P14Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.2365del (heterozygous)Small for gestational age (HP:0001518); Intellectual disability, moderate (HP:0002342); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Cortical dysplasia (HP:0002539); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Feeding difficulties (HP:0011968)
33 (FEMALE; P2Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.4152_4172del (heterozygous)Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability, moderate (HP:0002342); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Sleep disturbance (HP:0002360); Feeding difficulties (HP:0011968)
34 (MALE; P21Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.3597_3598dup (heterozygous)Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability, severe (HP:0010864); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Seizure (HP:0001250); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369)
35 (FEMALE; P6Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.6087del (heterozygous)Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability, mild (HP:0001256); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Seizure (HP:0001250); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761)
36 (FEMALE; P7Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.4640del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Strabismus (HP:0000486); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Visual impairment (HP:0000505); Hypermetropia (HP:0000540)
37 (FEMALE; P34Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.4358_4359del (heterozygous)Small for gestational age (HP:0001518); Intellectual disability, mild (HP:0001256); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Autistic behavior (HP:0000729); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Horseshoe kidney (HP:0000085)
38 (MALE; P6Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.6002_6003insCC (heterozygous)Intellectual disability, mild (HP:0001256); Intellectual disability (HP:0001249); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Cortical dysplasia (HP:0002539); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); Cortical visual impairment (HP:0100704)
39 (FEMALE; P8Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.4999_5013del (heterozygous)Intellectual disability, mild (HP:0001256); Intellectual disability (HP:0001249); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Visual impairment (HP:0000505); Hypermetropia (HP:0000540)
40 (MALE; P6Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Intellectual disability, mild (HP:0001256); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Seizure (HP:0001250); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Visual impairment (HP:0000505); Cortical visual impairment (HP:0100704)
41 (MALE; P19Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.3852_3856del (heterozygous)Small for gestational age (HP:0001518); Intellectual disability, moderate (HP:0002342); Intellectual disability (HP:0001249); Ventriculomegaly (HP:0002119); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369)
42 (FEMALE; P4Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Intellectual disability, severe (HP:0010864); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Cortical dysplasia (HP:0002539); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); Dysphagia (HP:0002015); Ventricular septal defect (HP:0001629); Visual impairment (HP:0000505); Cortical visual impairment (HP:0100704)
43 (FEMALE; P9Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.1881_1882del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Cortical dysplasia (HP:0002539); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downward slanting palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Feeding difficulties (HP:0011968); Horseshoe kidney (HP:0000085); Renal cyst (HP:0000107); Visual impairment (HP:0000505); Cortical visual impairment (HP:0100704)
44 (FEMALE; P5Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5549_5550del (heterozygous)Intellectual disability, moderate (HP:0002342); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Seizure (HP:0001250); Polymicrogyria (HP:0002126); Cortical dysplasia (HP:0002539); Strabismus (HP:0000486); Feeding difficulties (HP:0011968)
45 (FEMALE; P9Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.3852_3856del (heterozygous)Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); EEG abnormality (HP:0002353); Autistic behavior (HP:0000729); Downward slanting palpebral fissures (HP:0000494); Thin upper lip vermilion (HP:0000219); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Recurrent otitis media (HP:0000403)
46 (FEMALE; P3Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5528C>A (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Hypotonia (HP:0001252); Facial asymmetry (HP:0000324); Downward slanting palpebral fissures (HP:0000494); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Low-set ears (HP:0000369); Feeding difficulties (HP:0011968); Ventricular septal defect (HP:0001629)
47 (FEMALE; P9Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.3073dup (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Hypotonia (HP:0001252); EEG abnormality (HP:0002353); Downward slanting palpebral fissures (HP:0000494); Strabismus (HP:0000486); Feeding difficulties (HP:0011968); Dysphagia (HP:0002015); Renal cyst (HP:0000107)
48 (FEMALE; P15Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Caesarian section (HP:0011410); EEG abnormality (HP:0002353); Downward slanting palpebral fissures (HP:0000494); Feeding difficulties (HP:0011968); Visual impairment (HP:0000505)
49 (FEMALE; P3Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.286C>T (heterozygous)Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Caesarian section (HP:0011410); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Epicanthus (HP:0000286); Feeding difficulties (HP:0011968); Dysphagia (HP:0002015); Visual impairment (HP:0000505); Cortical visual impairment (HP:0100704); Recurrent otitis media (HP:0000403)
50 (MALE; P23Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.6233del (heterozygous)Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Caesarian section (HP:0011410); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Autistic behavior (HP:0000729); Downward slanting palpebral fissures (HP:0000494); Feeding difficulties (HP:0011968); Dysphagia (HP:0002015); Visual impairment (HP:0000505)
51 (FEMALE; P6Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.5753_5756del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Premature birth (HP:0001622); Caesarian section (HP:0011410); Hypotonia (HP:0001252); Seizure (HP:0001250); EEG abnormality (HP:0002353); Autistic behavior (HP:0000729); Horizontal eyebrow (HP:0011228); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Feeding difficulties (HP:0011968); Atrial septal defect (HP:0001631); Recurrent otitis media (HP:0000403)
52 (MALE; P3Y)\n", - "ZTTK SYNDROME (OMIM:617140)\n", - "NM_138927.2:c.4919_4923del (heterozygous)Decreased body weight (HP:0004325); Intellectual disability, mild (HP:0001256); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Seizure (HP:0001250); EEG abnormality (HP:0002353); Sleep disturbance (HP:0002360); Facial asymmetry (HP:0000324); Strabismus (HP:0000486); Epicanthus (HP:0000286); Low-set ears (HP:0000369); Feeding difficulties (HP:0011968); Dysphagia (HP:0002015); Recurrent otitis media (HP:0000403)
\n" + "IndividualDiseaseGenotypePhenotypic features\n", + "1 (MALE; P5Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Decreased body weight (HP:0004325); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Sleep abnormality (HP:0002360); Downslanted palpebral fissures (HP:0000494); Thin upper lip vermilion (HP:0000219); Low-set ears (HP:0000369); Posteriorly rotated ears (HP:0000358); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "2 (MALE; P2Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Macrocephaly (HP:0000256); Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Seizure (HP:0001250); EEG abnormality (HP:0002353); Sleep abnormality (HP:0002360); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "3 (FEMALE; P2Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Primary microcephaly (HP:0011451); Birth length less than 3rd percentile (HP:0003561); Small for gestational age (HP:0001518); Delayed speech and language development (HP:0000750); Hypotonia (HP:0001252); Sleep abnormality (HP:0002360); Downslanted palpebral fissures (HP:0000494); Strabismus (HP:0000486); Low-set ears (HP:0000369); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "4 (FEMALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.3203C>G (heterozygous)Microcephaly (HP:0000252); Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, moderate (HP:0002342); Delayed speech and language development (HP:0000750); Hypotonia (HP:0001252); Seizure (HP:0001250); EEG abnormality (HP:0002353); Ventriculomegaly (HP:0002119); Downslanted palpebral fissures (HP:0000494); Strabismus (HP:0000486); Epicanthus (HP:0000286); Feeding difficulties (HP:0011968); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Deeply set eye (HP:0000490); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "5 (MALE; P9Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.457del (heterozygous)Microcephaly (HP:0000252); Short stature (HP:0004322); Increased body weight (HP:0004324); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Seizure (HP:0001250); EEG abnormality (HP:0002353); Ventriculomegaly (HP:0002119); Sleep abnormality (HP:0002360); Downslanted palpebral fissures (HP:0000494); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Renal cyst (HP:0000107); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "6 (FEMALE; P15Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.384del (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Seizure (HP:0001250); EEG abnormality (HP:0002353); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Sleep abnormality (HP:0002360); Strabismus (HP:0000486); Feeding difficulties (HP:0011968); Visual impairment (HP:0000505); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "7 (MALE; P7Y)ZTTK SYNDROME (OMIM:617140)0.19Mb deletion: chromosomal_deletion (SO:1000029)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, moderate (HP:0002342); Delayed speech and language development (HP:0000750); Premature birth (HP:0001622); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Autistic behavior (HP:0000729); Downslanted palpebral fissures (HP:0000494); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Horseshoe kidney (HP:0000085); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Renal cyst (HP:0000107); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "8 (MALE; P3Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.6010del (heterozygous)Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Seizure (HP:0001250); Sleep abnormality (HP:0002360); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: EEG abnormality (HP:0002353); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "9 (FEMALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.3711del (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, mild (HP:0001256); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410); Sleep abnormality (HP:0002360); Strabismus (HP:0000486); Epicanthus (HP:0000286); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); Ventricular septal defect (HP:0001629); Recurrent otitis media (HP:0000403); excluded: Premature birth (HP:0001622); excluded: Hypotonia (HP:0001252); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Dysphagia (HP:0002015); excluded: Atrial septal defect (HP:0001631); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Neoplasm (HP:0002664)\n", + "10 (MALE; P2Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.6010del (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, moderate (HP:0002342); Delayed speech and language development (HP:0000750); Seizure (HP:0001250); EEG abnormality (HP:0002353); Sleep abnormality (HP:0002360); Downslanted palpebral fissures (HP:0000494); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "11 (FEMALE; P11Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Intellectual disability, mild (HP:0001256); Delayed speech and language development (HP:0000750); Posteriorly rotated ears (HP:0000358); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704)\n", + "12 (MALE; P14Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.348_351del (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Downslanted palpebral fissures (HP:0000494); Posteriorly rotated ears (HP:0000358); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Visual impairment (HP:0000505); excluded: Premature birth (HP:0001622); excluded: Hypotonia (HP:0001252); excluded: EEG abnormality (HP:0002353); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Low-set ears (HP:0000369); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Neoplasm (HP:0002664)\n", + "13 (FEMALE; P27Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Hypotonia (HP:0001252); Sleep abnormality (HP:0002360); Posteriorly rotated ears (HP:0000358); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Dysphagia (HP:0002015); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704)\n", + "14 (MALE; P13Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Intellectual disability, mild (HP:0001256); Delayed speech and language development (HP:0000750); Ventriculomegaly (HP:0002119); Midface retrusion (HP:0011800); Strabismus (HP:0000486); Feeding difficulties (HP:0011968); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "15 (FEMALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.668C>T (heterozygous)Hypotonia (HP:0001252); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "16 (MALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.3334C>T (heterozygous)Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Strabismus (HP:0000486); Epicanthus (HP:0000286); Posteriorly rotated ears (HP:0000358); Generalized joint laxity (HP:0002761); Ventricular septal defect (HP:0001629); Atrial septal defect (HP:0001631); Visual impairment (HP:0000505); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "17 (FEMALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.1881_1882del (heterozygous)Microcephaly (HP:0000252); Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability, moderate (HP:0002342); Delayed speech and language development (HP:0000750); Seizure (HP:0001250); EEG abnormality (HP:0002353); Sleep abnormality (HP:0002360); Midface retrusion (HP:0011800); Low-set ears (HP:0000369); Horseshoe kidney (HP:0000085); Visual impairment (HP:0000505); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "18 (MALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.1736C>G (heterozygous)Microcephaly (HP:0000252); Decreased body weight (HP:0004325); Delayed speech and language development (HP:0000750); Epicanthus (HP:0000286); excluded: Intellectual disability (HP:0001249); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "19 (MALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.4018del (heterozygous)Small for gestational age (HP:0001518); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Strabismus (HP:0000486); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); Horseshoe kidney (HP:0000085); Renal cyst (HP:0000107); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); Recurrent otitis media (HP:0000403); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Cerebral visual impairment (HP:0100704); excluded: Neoplasm (HP:0002664)\n", + "20 (FEMALE; P5Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.4678del (heterozygous)Intellectual disability (HP:0001249); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Recurrent otitis media (HP:0000403)\n", + "21 (FEMALE; P15Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.1444del (heterozygous)Intellectual disability, moderate (HP:0002342); Caesarian section (HP:0011410); Seizure (HP:0001250); Midface retrusion (HP:0011800); Strabismus (HP:0000486); Ventricular septal defect (HP:0001629); Atrial septal defect (HP:0001631); excluded: Premature birth (HP:0001622); excluded: Hypotonia (HP:0001252); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "22 (FEMALE; P13Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.394C>T (heterozygous)Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability (HP:0001249); Hypoplasia of the corpus callosum (HP:0002079); Horizontal eyebrow (HP:0011228); Thin upper lip vermilion (HP:0000219); Low-set ears (HP:0000369); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "23 (MALE; P13Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410); Hypotonia (HP:0001252); Epicanthus (HP:0000286); Posteriorly rotated ears (HP:0000358); Feeding difficulties (HP:0011968); excluded: Premature birth (HP:0001622); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "24 (MALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5230del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Premature birth (HP:0001622); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Epicanthus (HP:0000286); Low-set ears (HP:0000369); Feeding difficulties (HP:0011968); Horseshoe kidney (HP:0000085); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "25 (MALE; P10Y)ZTTK SYNDROME (OMIM:617140)Whole gene deletion: chromosomal_deletion (SO:1000029)Microcephaly (HP:0000252); Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability, severe (HP:0010864); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Cortical dysplasia (HP:0002539); Strabismus (HP:0000486); Generalized joint laxity (HP:0002761); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Pes planus (HP:0001763); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "26 (MALE; P10Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability, moderate (HP:0002342); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Strabismus (HP:0000486); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "27 (FEMALE; P10Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); Atrial septal defect (HP:0001631); Renal cyst (HP:0000107); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Strabismus (HP:0000486); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Horseshoe kidney (HP:0000085); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "28 (MALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.4549dup (heterozygous)Short stature (HP:0004322); Intellectual disability, moderate (HP:0002342); Premature birth (HP:0001622); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Strabismus (HP:0000486); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Generalized joint laxity (HP:0002761); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "29 (MALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.4055del (heterozygous)Intellectual disability, moderate (HP:0002342); Premature birth (HP:0001622); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Pes planus (HP:0001763); Atrial septal defect (HP:0001631); Renal cyst (HP:0000107); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); Recurrent otitis media (HP:0000403); excluded: Caesarian section (HP:0011410); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Horseshoe kidney (HP:0000085); excluded: Cerebral visual impairment (HP:0100704); excluded: Neoplasm (HP:0002664)\n", + "30 (MALE; P1Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.268del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Atrial septal defect (HP:0001631); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "31 (MALE; P7Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.3334C>T (heterozygous)Intellectual disability, severe (HP:0010864); Premature birth (HP:0001622); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Cortical dysplasia (HP:0002539); Autistic behavior (HP:0000729); Strabismus (HP:0000486); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Generalized joint laxity (HP:0002761); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "32 (MALE; P14Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.2365del (heterozygous)Small for gestational age (HP:0001518); Intellectual disability, moderate (HP:0002342); Premature birth (HP:0001622); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Cortical dysplasia (HP:0002539); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Feeding difficulties (HP:0011968); excluded: Caesarian section (HP:0011410); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "33 (FEMALE; P2Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.4152_4172del (heterozygous)Microcephaly (HP:0000252); Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability, moderate (HP:0002342); Hypotonia (HP:0001252); Sleep abnormality (HP:0002360); Feeding difficulties (HP:0011968); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Autistic behavior (HP:0000729); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "34 (MALE; P21Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.3597_3598dup (heterozygous)Microcephaly (HP:0000252); Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability, severe (HP:0010864); Hypotonia (HP:0001252); Seizure (HP:0001250); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Strabismus (HP:0000486); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "35 (FEMALE; P6Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.6087del (heterozygous)Short stature (HP:0004322); Small for gestational age (HP:0001518); Intellectual disability, mild (HP:0001256); Hypotonia (HP:0001252); Seizure (HP:0001250); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "36 (FEMALE; P7Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.4640del (heterozygous)Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Strabismus (HP:0000486); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "37 (FEMALE; P34Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.4358_4359del (heterozygous)Small for gestational age (HP:0001518); Intellectual disability, mild (HP:0001256); Hypotonia (HP:0001252); Ventriculomegaly (HP:0002119); Autistic behavior (HP:0000729); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Horseshoe kidney (HP:0000085); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Sleep abnormality (HP:0002360); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "38 (MALE; P6Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.6002_6003insCC (heterozygous)Intellectual disability, mild (HP:0001256); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Cortical dysplasia (HP:0002539); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Hypermetropia (HP:0000540); Cerebral visual impairment (HP:0100704); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: EEG abnormality (HP:0002353); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "39 (FEMALE; P8Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.4999_5013del (heterozygous)Intellectual disability, mild (HP:0001256); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Visual impairment (HP:0000505); Hypermetropia (HP:0000540); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Strabismus (HP:0000486); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "40 (MALE; P6Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Intellectual disability, mild (HP:0001256); Premature birth (HP:0001622); Seizure (HP:0001250); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Cerebral visual impairment (HP:0100704); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Strabismus (HP:0000486); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "41 (MALE; P19Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.3852_3856del (heterozygous)Small for gestational age (HP:0001518); Intellectual disability, moderate (HP:0002342); Ventriculomegaly (HP:0002119); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Hypotonia (HP:0001252); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Strabismus (HP:0000486); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Feeding difficulties (HP:0011968); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "42 (FEMALE; P4Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Intellectual disability, severe (HP:0010864); Premature birth (HP:0001622); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Cortical dysplasia (HP:0002539); Pes planus (HP:0001763); Feeding difficulties (HP:0011968); Dysphagia (HP:0002015); Ventricular septal defect (HP:0001629); Cerebral visual impairment (HP:0100704); excluded: Caesarian section (HP:0011410); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Generalized joint laxity (HP:0002761); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "43 (FEMALE; P9Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.1881_1882del (heterozygous)Microcephaly (HP:0000252); Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Premature birth (HP:0001622); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Cortical dysplasia (HP:0002539); Horizontal eyebrow (HP:0011228); Facial asymmetry (HP:0000324); Midface retrusion (HP:0011800); Downslanted palpebral fissures (HP:0000494); Strabismus (HP:0000486); Deeply set eye (HP:0000490); Low-set ears (HP:0000369); Feeding difficulties (HP:0011968); Horseshoe kidney (HP:0000085); Renal cyst (HP:0000107); Cerebral visual impairment (HP:0100704); excluded: Caesarian section (HP:0011410); excluded: EEG abnormality (HP:0002353); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Hypermetropia (HP:0000540); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "44 (FEMALE; P5Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5549_5550del (heterozygous)Intellectual disability, moderate (HP:0002342); Hypotonia (HP:0001252); Seizure (HP:0001250); Polymicrogyria (HP:0002126); Cortical dysplasia (HP:0002539); Strabismus (HP:0000486); Feeding difficulties (HP:0011968); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "45 (FEMALE; P9Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.3852_3856del (heterozygous)Microcephaly (HP:0000252); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Hypotonia (HP:0001252); EEG abnormality (HP:0002353); Autistic behavior (HP:0000729); Downslanted palpebral fissures (HP:0000494); Thin upper lip vermilion (HP:0000219); Generalized joint laxity (HP:0002761); Feeding difficulties (HP:0011968); Recurrent otitis media (HP:0000403); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Neoplasm (HP:0002664)\n", + "46 (FEMALE; P3Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5528C>A (heterozygous)Microcephaly (HP:0000252); Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Premature birth (HP:0001622); Hypotonia (HP:0001252); Facial asymmetry (HP:0000324); Downslanted palpebral fissures (HP:0000494); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Low-set ears (HP:0000369); Feeding difficulties (HP:0011968); Ventricular septal defect (HP:0001629); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: EEG abnormality (HP:0002353); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Midface retrusion (HP:0011800); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704)\n", + "47 (FEMALE; P9Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.3073dup (heterozygous)Short stature (HP:0004322); Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Premature birth (HP:0001622); Hypotonia (HP:0001252); EEG abnormality (HP:0002353); Downslanted palpebral fissures (HP:0000494); Strabismus (HP:0000486); Feeding difficulties (HP:0011968); Dysphagia (HP:0002015); Renal cyst (HP:0000107); excluded: Caesarian section (HP:0011410); excluded: Seizure (HP:0001250); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "48 (FEMALE; P15Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Premature birth (HP:0001622); Caesarian section (HP:0011410); EEG abnormality (HP:0002353); Downslanted palpebral fissures (HP:0000494); Feeding difficulties (HP:0011968); Visual impairment (HP:0000505); excluded: Hypotonia (HP:0001252); excluded: Seizure (HP:0001250); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "49 (FEMALE; P3Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.286C>T (heterozygous)Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Premature birth (HP:0001622); Caesarian section (HP:0011410); Hypotonia (HP:0001252); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Epicanthus (HP:0000286); Feeding difficulties (HP:0011968); Dysphagia (HP:0002015); Cerebral visual impairment (HP:0100704); Recurrent otitis media (HP:0000403); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Neoplasm (HP:0002664)\n", + "50 (MALE; P23Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.6233del (heterozygous)Decreased body weight (HP:0004325); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410); Seizure (HP:0001250); Ventriculomegaly (HP:0002119); Autistic behavior (HP:0000729); Downslanted palpebral fissures (HP:0000494); Feeding difficulties (HP:0011968); Dysphagia (HP:0002015); Visual impairment (HP:0000505); excluded: Premature birth (HP:0001622); excluded: Hypotonia (HP:0001252); excluded: EEG abnormality (HP:0002353); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Sleep abnormality (HP:0002360); excluded: Horizontal eyebrow (HP:0011228); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Epicanthus (HP:0000286); excluded: Thin upper lip vermilion (HP:0000219); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Recurrent otitis media (HP:0000403); excluded: Neoplasm (HP:0002664)\n", + "51 (FEMALE; P6Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.5753_5756del (heterozygous)Microcephaly (HP:0000252); Short stature (HP:0004322); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Premature birth (HP:0001622); Caesarian section (HP:0011410); Hypotonia (HP:0001252); Seizure (HP:0001250); EEG abnormality (HP:0002353); Autistic behavior (HP:0000729); Horizontal eyebrow (HP:0011228); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Feeding difficulties (HP:0011968); Atrial septal defect (HP:0001631); Recurrent otitis media (HP:0000403); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Sleep abnormality (HP:0002360); excluded: Facial asymmetry (HP:0000324); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Strabismus (HP:0000486); excluded: Deeply set eye (HP:0000490); excluded: Low-set ears (HP:0000369); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Dysphagia (HP:0002015); excluded: Ventricular septal defect (HP:0001629); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Neoplasm (HP:0002664)\n", + "52 (MALE; P3Y)ZTTK SYNDROME (OMIM:617140)NM_138927.2:c.4919_4923del (heterozygous)Decreased body weight (HP:0004325); Intellectual disability, mild (HP:0001256); Delayed speech and language development (HP:0000750); Hypotonia (HP:0001252); Seizure (HP:0001250); EEG abnormality (HP:0002353); Sleep abnormality (HP:0002360); Facial asymmetry (HP:0000324); Strabismus (HP:0000486); Epicanthus (HP:0000286); Low-set ears (HP:0000369); Feeding difficulties (HP:0011968); Dysphagia (HP:0002015); Recurrent otitis media (HP:0000403); excluded: Premature birth (HP:0001622); excluded: Caesarian section (HP:0011410); excluded: Ventriculomegaly (HP:0002119); excluded: Hypoplasia of the corpus callosum (HP:0002079); excluded: Polymicrogyria (HP:0002126); excluded: Cortical dysplasia (HP:0002539); excluded: Autistic behavior (HP:0000729); excluded: Horizontal eyebrow (HP:0011228); excluded: Midface retrusion (HP:0011800); excluded: Downslanted palpebral fissures (HP:0000494); excluded: Deeply set eye (HP:0000490); excluded: Thin upper lip vermilion (HP:0000219); excluded: Posteriorly rotated ears (HP:0000358); excluded: Generalized joint laxity (HP:0002761); excluded: Pes planus (HP:0001763); excluded: Ventricular septal defect (HP:0001629); excluded: Atrial septal defect (HP:0001631); excluded: Horseshoe kidney (HP:0000085); excluded: Renal cyst (HP:0000107); excluded: Hypermetropia (HP:0000540); excluded: Cerebral visual impairment (HP:0100704); excluded: Neoplasm (HP:0002664)\n", + "" ], "text/plain": [ "" @@ -2182,15 +1449,14 @@ } ], "source": [ - "from IPython.display import HTML, display\n", - "phenopackets = [i.to_ga4gh_phenopacket(metadata=metadata.to_ga4gh()) for i in individuals]\n", - "table = PhenopacketTable(phenopacket_list=phenopackets)\n", + "individuals = cvalidator.get_error_free_individual_list()\n", + "table = PhenopacketTable(individual_list=individuals, metadata=metadata)\n", "display(HTML(table.to_html()))" ] }, { "cell_type": "code", - "execution_count": 26, + "execution_count": 21, "id": "23f1094f", "metadata": {}, "outputs": [ @@ -2205,17 +1471,27 @@ "source": [ "output_directory = \"phenopackets\"\n", "Individual.output_individuals_as_phenopackets(individual_list=individuals,\n", - " pmid=PMID,\n", - " metadata=metadata.to_ga4gh(),\n", + " metadata=metadata,\n", " outdir=output_directory)" ] }, { "cell_type": "code", - "execution_count": null, + "execution_count": 22, "id": "d3c33832-9dda-4e8e-bd05-81fc4da46419", "metadata": {}, "outputs": [], + "source": [ + "# pxf validate --hpo hp.json *.json\n", + "# No errors" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "id": "0f068842-8026-4332-ab15-f2f380f2eb1f", + "metadata": {}, + "outputs": [], "source": [] } ], diff --git a/notebooks/SON/phenopackets/PMID_34521999_1.json b/notebooks/SON/phenopackets/PMID_34521999_1.json new file mode 100644 index 000000000..8c5a87da3 --- /dev/null +++ b/notebooks/SON/phenopackets/PMID_34521999_1.json @@ -0,0 +1,363 @@ +{ + "id": "PMID_34521999_1", + "subject": { + "id": "1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + }, + "sex": "MALE" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0002360", + "label": "Sleep abnormality" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0002761", + "label": "Generalized joint laxity" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0001622", + "label": "Premature birth" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0011410", + "label": "Caesarian section" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0002126", + "label": "Polymicrogyria" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0002539", + "label": "Cortical dysplasia" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0011228", + "label": "Horizontal eyebrow" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000324", + "label": "Facial asymmetry" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + }, + "excluded": true + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + }, + "excluded": true + }, + { + "type": { + 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