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autosomal recessive nonsyndromic deafness 77

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 LOXHD1 gene.
Uniprot Description A form of non-syndromic deafness characterized by preserved low-frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood.
Mondo Term and Equivalent IDs
MONDO:0013119:  autosomal recessive nonsyndromic deafness 77
MESH:C567543: 
UMLS:C2746083: