DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive nonsyndromic deafness 53

Autosomal recessive nonsyndromic deafness 53 [DOID:0110509]

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 COL11A2 gene on chromosome 6p21.

Synonyms:  autosomal recessive nonsyndromic deafness 53,  DOID:0110509,  DFNB53,  autosomal recessive deafness 53