Human genes for Martsolf syndrome
Martsolf syndrome [DOID:0111586]
A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41.
Synonyms: Martsolf syndrome, DOID:0111586, Martsolf disease, Martsolf disorder, Martsolf syndromes ...