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autosomal recessive nonsyndromic deafness 48

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 CIB2 gene.
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. DFNB48 patients have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies.
Mondo Term and Equivalent IDs
MONDO:0012273:  autosomal recessive nonsyndromic deafness 48
MESH:C563720: 
UMLS:C1836199: