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 )

Relationships
is a type of: autosomal recessive disease syndrome