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Hearing "loss," autosomal dominant 75
- ... hearing loss has different patterns of inheritance. Between 75 and 80 ... has an autosomal dominant pattern of inheritance, which means one copy of ...
- ... 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 form of ...
- ... Some affected individuals have additional features such as hearing loss or movement problems.Mutations in the OPA3 gene that cause autosomal dominant optic atrophy and cataract occur in one copy ...
- ... in the CLCN7 gene are responsible for about 75 percent of cases of autosomal dominant osteopetrosis, 10 to 15 percent of cases of ...
- ... whether DSPP gene mutations are related to the hearing loss found in a few older individuals with dentinogenesis imperfecta type II. DSPP This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... in the SF3B4 gene, Nager syndrome follows an autosomal dominant inheritance pattern, which means one copy of the ... person inherits the mutation from one affected parent. Autosomal dominant Nager syndrome may also be caused by mutations ...
- ... COL2A1 gene can also cause a condition called autosomal dominant rhegmatogenous retinal detachment. Rhegmatogenous retinal detachment occurs when ... JJ, van Driel MA, Cremers FP, Hoyng CB. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation ...
- Physical Therapy for Facioscapulohumeral Muscular Dystrophy (FSHD) (FacioScapuloHumeral Muscular Dystrophy Society) - PDFMuscular Dystrophy/Living With ... Muscular Dystrophy ... FacioScapuloHumeral Muscular Dystrophy Society ... PDF
- ... unknown. TGFB1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... SMCHD1 chromosome 4 FSHD1 is inherited in an autosomal dominant pattern, which means one copy of the shortened ...