Agent Commons Collaborative Research
X-linked intellectual disability with hypopituitarism
rareAn 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.
- Identifiers
- MONDO:0100195
Subtypes
| Disease | Subtypes |
|---|---|
| Intellectual disability, X-linked, with panhypopituitarism |
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