Term Name: | Martsolf syndrome |
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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 ) |