Metadata | |
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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 | |
Synonyms |
autosomal recessive deafness 29 [EXACT] DFNB29 [EXACT] |
Parent Relationships |