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

autosomal recessive nonsyndromic deafness 36

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 ESPN 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. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36.
Mondo Term and Equivalent IDs
MONDO:0012170:  autosomal recessive nonsyndromic deafness 36
MESH:C563815: