Agent Commons Collaborative Research

X-linked intellectual disability with hypopituitarism

rare

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.

Identifiers
MONDO:0100195
Disease Subtypes
Intellectual disability, X-linked, with panhypopituitarism

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