autosomal recessive nonsyndromic deafness 23

Term ID

DOID:0110481

Synonyms

• autosomal recessive deafness 23
• DFNB23

Definition

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 PCDH15 gene on chromosome 10q21. https://www.ncbi.nlm.nih.gov/pubmed/14570705

References

• ICD10CM:H90.3
• MIM:609533

Ontology

Human Disease   ( DOID:0110481 )