SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder
MONDO:0800474Mondo
Findings
No curated finding names SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked syndromic intellectual disability 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 from the Mondo Disease Ontology (MONDO:0800474), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SOX3HGNC:11199
- Moderate · ClinGen · X-linked · 2026