autosomal recessive nonsyndromic hearing loss 1A
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.
MONDO:0019588
hearing loss, autosomal recessive
is_a
MONDO:1060236
GJB2-related disorder
is_a
DFNB1
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DFNB1A
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GJB2-AR NSHL
exact
GJB2-related autosomal recessive nonsyndromic hearing loss
exact
GJB2-related deafness
broad
autosomal recessive deafness 1A
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autosomal recessive nonsyndromic deafness 1A
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autosomal recessive nonsyndromic deafness type 1A
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autosomal recessive nonsyndromic hearing loss 1A
exact
connexin 26 deafness
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deafness nonsyndromic, connexin 26 linked
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deafness, autosomal recessive 1A
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deafness, autosomal recessive type 1A
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