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autosomal recessive nonsyndromic deafness 79

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene.
Uniprot Description A form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction.
Mondo Term and Equivalent IDs
MONDO:0013215:  autosomal recessive nonsyndromic deafness 79
MESH:C567651: 
UMLS:C2750082: