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autosomal recessive nonsyndromic deafness 28

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.
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:0012355:  autosomal recessive nonsyndromic deafness 28
MESH:C565218: 
NCIT:C129023: 
UMLS:C1853276: