Metadata | |
---|---|
ID | DOID:0110491 |
Name | autosomal recessive nonsyndromic deafness 32 |
Definition | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2. https://pubmed.ncbi.nlm.nih.gov/27259055/, https://www.ncbi.nlm.nih.gov/pubmed/12634867 |
Xrefs | |
Alternateids |
DOID:0110466 |
Synonyms |
autosomal recessive deafness 105 [EXACT] autosomal recessive deafness 32 [EXACT] DFNB32 [EXACT] hearing impairment infertile male syndrome [EXACT] HIIMS [EXACT] |
Parent Relationships |