Conditions / Genetic
cataract 48
info · Genetic
A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment.
Signs and symptoms
- Cataract
- Reduced visual acuity
- Amblyopia
- Exotropia
- Miosis
- Pendular nystagmus
Also known as: CTRCT48