autosomal recessive nonsyndromic deafness 100

Term ID

DOID:0111638

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. https://www.ncbi.nlm.nih.gov/pubmed/29590114

References

• OMIM:618422

Ontology

Human Disease   ( DOID:0111638 )