Phenotype Library | Search Phenotypes

Autosomal Recessive Nonsyndromic Hearing Loss 49 (MONDO:0012420)

An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.

Overview

Category

auditory system disorder

nervous system disorder

Ontology ID

MONDO:0012420

Internal:13471

Synonyms

autosomal recessive nonsyndromic hearing loss 49

DFNB49

MARVELD2 autosomal recessive nonsyndromic deafness

autosomal recessive deafness 49

autosomal recessive nonsyndromic deafness 49

autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2

autosomal recessive nonsyndromic deafness type 49

deafness, autosomal recessive 49

deafness, autosomal recessive type 49

Mapped terms

DOID:0110506

GARD:0022619

MEDGEN:346670

MESH:C565717

NCIT:C129024

OMIM:610153

UMLS:C1857811

Child terms

Unknown children.

Results

Cookie consent