| Term Name: | Martsolf syndrome |
|---|---|
| Synonyms: | cataract-intellectual disability-hypogonadism syndrome |
| Definition: | A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. |
| Ontology: | Human Disease [DOID:0111586] ( DOID:0111586 ) |