... caused by abnormalities of the inner ear (sensorineural deafness). Autosomal dominant optic atrophy and cataract is one form of autosomal dominant optic atrophy, a group of conditions that are estimated to affect 1 in 30,000 people worldwide, and approximately 1 in 10, ...

... an autosomal dominant pattern in about 20 to 30 percent of cases. People with this form ... syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic ...

... National Organization for Rare Disorders (NORD) ClinicalTrials.gov DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, AUTOSOMAL RECESSIVE ...

The GJB3 gene provides instructions for making a protein called gap junction beta 3, more commonly known as connexin 31. This protein is part of the connexin ...

... in people with a nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN). Features of this disorder include ...

... bones, nerve tissue, and muscles seen in craniofacial-deafness-hand syndrome. PAX3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... Organization for Rare Disorders (NORD) KERATODERMA, PALMOPLANTAR, WITH DEAFNESS PubMed Birkenhager R, Lublinghoff N, Prera E, Schild C, Aschendorff A, Arndt S. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability ...

... a condition called optic atrophy type 1 and deafness, which results in both vision loss and hearing loss. OPA1 mutations can also cause a condition known as autosomal dominant optic atrophy (ADOA)-plus syndrome. ADOA-plus syndrome ...

... impulses. GJB2 ... Knuckle pads, deafness, and leukonychia syndrome Knuckle pads, leukonychia, and sensorineural ...

... IE. DNMT1 ... disorder DNMT1-related dementia, deafness, and sensory neuropathy Hereditary sensory and autonomic neuropathy ...