/autosomal recessive nonsyndromic hearing loss 49

autosomal recessive nonsyndromic hearing loss 49

Rare Disease

MONDO:0012420

Also Known As

autosomal recessive nonsyndromic hearing loss 49DFNB49MARVELD2 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 49autosomal recessive nonsyndromic deafness 49autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2autosomal recessive nonsyndromic deafness type 49deafness, autosomal recessive 49deafness, autosomal recessive type 49

Definition

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.