Term Name: autosomal recessive nonsyndromic deafness 100
Synonyms: autosomal recessive deafness 100, DFNB100
Definition: An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1.
Ontology: Human Disease [DOID:0111638]   ( DOID:0111638 )

Relationships
is a type of: autosomal recessive nonsyndromic deafness