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Deafness, autosomal recessive 1A(DFNB1A)

MedGen UID:
388720
Concept ID:
C2673759
Disease or Syndrome
Synonyms: Connexin 26 deafness; Deafness nonsyndromic, Connexin 26 linked; DFNB 1 Nonsyndromic Hearing Loss and Deafness; DFNB1A; GJB2-related deafness; GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; Nonsyndromic Hearing Loss and Deafness, DFNB1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Digenic inheritance
MedGen UID:
869192
Concept ID:
C4023614
Genetic Function
Source: HPO
A type of multifactorial inheritance governed by the simultaneous action of two gene loci.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Genes (locations): GJB2 (13q12.11); GJB3 (1p34.3); GJB6 (13q12.11)
OMIM®: 220290

Definition

Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital non-progressive mild-to-profound sensorineural hearing impairment. No other associated medical findings are present. [from GeneReviews]

Clinical features

Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Vestibular dysfunction
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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