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Autosomal Recessive Nonsyndromic Hearing Loss 1A (MONDO:0009076)

An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.

Overview

Category

auditory system disorder

nervous system disorder

Ontology ID

MONDO:0009076

Internal:10325

Synonyms

autosomal recessive nonsyndromic hearing loss 1A

deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant

deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant

DFNB1

DFNB1A

GJB2-related deafness

autosomal recessive deafness 1A

autosomal recessive nonsyndromic deafness 1A

autosomal recessive nonsyndromic deafness type 1A

connexin 26 deafness

deafness nonsyndromic, connexin 26 linked

deafness, autosomal recessive 1A

deafness, autosomal recessive 1a, autosomal recessive, digenic dominant

deafness, autosomal recessive type 1A

deafness, digenic, GJB2/GJB3

deafness, digenic, GJB2/GJB6

Mapped terms

DOID:0110475

GARD:0001697

MEDGEN:388720

MESH:C567134

NCIT:C129022

OMIM:220290

UMLS:C2673759

Child terms

Unknown children.

Results

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