Conditions / Syndrome
Usher syndrome type 1F
info · Syndrome · ICD-10: H35.5
An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q.
Signs and symptoms
- Congenital sensorineural hearing impairment
- Rod-cone dystrophy
- Abnormal vestibular function
- Impaired tandem gait
- Motor delay
Also known as: USH1F; Usher syndrome type IF