Conditions / Syndrome
Usher syndrome type 3A
info · Syndrome · ICD-10: H35.5
An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25.
Signs and symptoms
- Sensorineural hearing impairment
- Reduced visual acuity
- Rod-cone dystrophy
- Visual field defect
- Nyctalopia
- Abnormal vestibular function
Also known as: USH3A; Usher syndrome type IIIA