[NTR/SOX3]

[elliebroeren]

Preferred gene-related syndrome label
SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder

Synonyms
N/A

Parent term (use OLS, or your favorite ontology browser)
X-linked syndromic intellectual disability

Definition
This disease is caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.

Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
PMID: 25402377, PMID: 21289259, PMID: 15800844

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
N/A

Attribution
This is a request from the ClinGen Syndromic Disorders GCEP.

[nicolevasilevsky]

Hi @elliebroeren, thanks for reporting this. We are focused on a mass obsoletion effort this month, and will look at this more closely in November or later. We appreciate your patience.