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Metadata
ID DOID:0110487
Name autosomal recessive nonsyndromic deafness 29
Definition An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22.
https://www.ncbi.nlm.nih.gov/pubmed/11163249
Xrefs

ICD10CM:H90.3

OMIM:614035

Synonyms

autosomal recessive deafness 29 [EXACT]

DFNB29 [EXACT]

Parent Relationships

is_a autosomal recessive nonsyndromic deafness

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