Term Name: autosomal recessive nonsyndromic deafness 124
Synonyms: autosomal recessive deafness 124, DFNB124
Definition: An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23.
Ontology: Human Disease [DOID:0070676]   ( DOID:0070676 )

Relationships
is a type of: autosomal recessive nonsyndromic deafness