Conditions / Nervous system
autosomal recessive nonsyndromic deafness 4
info · Nervous system · ICD-10: H90.3
An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22.
Signs and symptoms
- Enlarged vestibular aqueduct
- Sensorineural hearing impairment
- Incomplete partition of the cochlea type II
- Goiter
Also known as: DFNB4; autosomal recessive deafness 4 with enlarged vestibular aqueduct