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Spinocerebellar "ataxia," autosomal recessive 25
- ... TPP1 gene have also been found to cause spinocerebellar ataxia, autosomal recessive 7 (SCAR7), which is a condition characterized by ... Tests of TPP1 PubMed TRIPEPTIDYL PEPTIDASE I; TPP1 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 NCBI Gene ClinVar Elleder M, Dvorakova ...
- ... with oculomotor apraxia and hypoalbuminemia Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Ataxia-oculomotor apraxia 3 ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ...
- ... Perrault syndrome with neurologic features. Neurology. 2014 Nov 25;83(22):2054-61. ... by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry ... hypogonadotropic hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, ...
- ... the gene. HDL3 is probably 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 ...
