Visualize Submit Comment

Metadata
ID	DOID:0110506
Name	autosomal recessive nonsyndromic deafness 49
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
Xrefs	ICD10CM:H90.3 MIM:610153
Synonyms	autosomal recessive deafness 49 [EXACT] DFNB49 [EXACT]
Parent Relationships	is_a autosomal recessive nonsyndromic deafness