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autosomal recessive nonsyndromic deafness 49

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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.
Uniprot Description A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Mondo Term and Equivalent IDs
MONDO:0012420:  autosomal recessive nonsyndromic deafness 49
MESH:C565717: 
NCIT:C129024: 
UMLS:C1857811: