Conditions / Nervous system
autosomal recessive nonsyndromic deafness 84A
info · Nervous system · ICD-10: H90.3
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.
Signs and symptoms
- Hearing impairment
- Abnormal vestibular function
- Motor delay
Also known as: DFNB84A; autosomal recessive deafness 84A; autosomal recessive deafness 84A with vestibular dysfunction