autosomal recessive nonsyndromic deafness 30

Term ID

DOID:0110489

Synonyms

• autosomal recessive deafness 30
• DFNB30

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/12032315

References

• ICD10CM:H90.3
• OMIM:607101
• ORDO:90636

Ontology

Human Disease   ( DOID:0110489 )