autosomal recessive nonsyndromic deafness 29

Term ID

DOID:0110487

Synonyms

• autosomal recessive deafness 29
• DFNB29

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 CLDN14 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/11163249

References

• ICD10CM:H90.3
• MIM:614035

Ontology

Human Disease   ( DOID:0110487 )