Conditions / Syndrome
Martsolf syndrome
info · Syndrome
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.
Signs and symptoms
- Talipes valgus
- Periventricular white matter hyperintensities
- Cataract
- Developmental cataract
- Delayed ability to sit
- Pes planus
- Avascular necrosis of the capital femoral epiphysis
- Micropenis
- Spastic diplegia
- Global developmental delay
Also known as: cataract-intellectual disability-hypogonadism syndrome