RS104894408 GJB2
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What This Variant Does
"This variant has been reported for both recessive and dominant forms of both deafness and keratitis-...
Associated Conditions
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Nonsyndromic genetic hearing loss
Hearing impairment
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Hearing loss
Autosomal recessive nonsyndromic hearing loss 1B
Rare genetic deafness
Mutilating keratoderma
7 conditions
GJB2-related disorder
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Nonsyndromic genetic hearing loss
Hearing impairment
Autosomal recessive nonsyndromic hearing loss 1A
Other Variants in GJB2