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GJB2-related disorder

A genetic disorder caused by a variation in the GJB2 gene, primarily associated with hearing loss and/or deafness.

Identifiers
MONDO:1060236
Causal genes
GJB2
Part of
Hereditary disease
Also known as
GJB2-related conditions

Subtypes

All diseases Rare only
Disease Subtypes
Bart-Pumphrey syndrome
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Ichthyosis, hystrix-like, with hearing loss
Keratoderma hereditarium mutilans
Palmoplantar keratoderma-deafness syndrome

Rare disease

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