Hearing loss, autosomal recessive 122

Synonyms: Deafness, autosomal recessive 122

Summary

Autosomal recessive deafness-122 (DFNB122) is characterized by postnatal onset of nonsyndromic sensorineural hearing loss leading to deafness by the second or third decade. The severity is variable, first affecting high frequencies, with progression to deficits in all frequencies. Noise exposure may contribute to faster progression and more severe hearing loss (Li et al., 2023). [from OMIM]

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Associated genes Help
Genes reported to contribute to the condition.

TMTC4
1 test
Also known as: DFNB122, TMTC4
Summary: transmembrane O-mannosyltransferase targeting cadherins 4

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MedlinePlus

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