DISEASES

Disease-gene associations mined from literature

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 ...