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autosomal recessive nonsyndromic deafness 30

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 MYO3A gene.
Uniprot Description A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies.
Mondo Term and Equivalent IDs
MONDO:0011774:  autosomal recessive nonsyndromic deafness 30
MESH:C564624: 
UMLS:C1846784: