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Hereditary hearing loss deafness
- ... Testing Registry: X-linked deafness Genetic Testing Registry: Hereditary hearing loss and deafness National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
- ... S. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. Am J Med Genet A. 2005 Aug 30; ...
- ... their family. DNMT1-complex disorder DNMT1-related dementia, deafness, and sensory neuropathy Hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss Hereditary sensory neuropathy type IE HSAN1E HSN IE ...
- Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.People with Alport syndrome experience progressive ...
- ... Citation on PubMed Usami SI, Nishio SY. Nonsyndromic Hearing Loss and Deafness, Mitochondrial. 2004 Oct 22 [updated 2018 Jun 14]. ...
- ... diarrhea, headache, and nausea. Some affected individuals develop hearing loss (sensorineural deafness) due to chronic inflammation. Familial cold autoinflammatory syndrome ...
- ... affected individuals have loss of vision or gradual hearing loss that sometimes leads to deafness.There are several types of Charcot-Marie-Tooth ... WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE NEUROPATHY, ... IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED ...
- ... Smith DI, Dyck PJ. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet. 2011 Jun;43(6):595-600. ...
- ... shaking (tremors). In some cases, affected individuals have hearing loss caused by abnormalities of the inner ear (sensorineural deafness). Autosomal dominant optic atrophy and cataract is one ...
- ... and MT-TE, can cause mitochondrial diabetes and deafness (MIDD). People with this condition have diabetes and sometimes hearing loss, particularly of high tones. The MT-TL1, MT- ...