Conditions / Syndrome

Usher syndrome type 3B

info · Syndrome · ICD-10: H35.5

An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31.

Signs and symptoms

Hyperactive patellar reflex
Hearing impairment
Truncal ataxia
Photophobia
Delayed gross motor development
Visual impairment
Optic disc pallor
Attenuation of retinal blood vessels
Bull's eye maculopathy
Horizontal nystagmus

Also known as: USH3B; Usher syndrome type IIIB