X-linked intellectual disability with hypopituitarism
MONDO:0100195Mondo
Findings
No curated finding names X-linked intellectual disability with hypopituitarism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.
Definition from the Mondo Disease Ontology (MONDO:0100195), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (1)