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Hearing "loss," autosomal recessive 107
- ... TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive ... features of hearing loss patients with CDH23 mutations: a large cohort study. ...
- Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... Muscular dystrophy (MD) refers to a group of genetic ...
- ... XRCC2 Fanconi anemia is typically inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... PEX5 PEX6 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... CCBE1 FAT4 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... of developing the disease. This is called an autosomal recessive trait. MPS III occurs when the enzymes needed ...
- ... of developing the disease. This is called an autosomal recessive trait. There are two forms of MPS IV: ...
- ... UGT1A1 Crigler-Najjar syndrome is inherited in an autosomal recessive pattern, which means both copies of the UGT1A1 ...
(National Institute of Neurological Disorders and Stroke) 