Conditions / Syndrome
Usher syndrome type 1B
info · Syndrome
An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13.
Signs and symptoms
- Visual loss
- Nystagmus
- Sensorineural hearing impairment
- Rod-cone dystrophy
- Abnormal electroretinogram
- Undetectable electroretinogram
- Motor delay
- Absent vestibular function
Also known as: USH1B; Usher syndrome type IB