autosomal recessive nonsyndromic deafness 49

Term ID

DOID:0110506

Synonyms

• autosomal recessive deafness 49
• DFNB49

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. https://www.ncbi.nlm.nih.gov/pubmed/18084694

References

• ICD10CM:H90.3
• MIM:610153

Ontology

Human Disease   ( DOID:0110506 )