You are using an outdated browser. Please upgrade your browser to improve your experience.

autosomal recessive nonsyndromic deafness 76

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 SYNE4 gene.
Uniprot Description A form of non-syndromic sensorineural deafness, a disorder resulting 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. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13.
Mondo Term and Equivalent IDs
MONDO:0014237:  autosomal recessive nonsyndromic deafness 76
UMLS:C3147083: