" /> Spastic paraplegia 9a, autosomal dominant - CISMeF





Preferred Label : Spastic paraplegia 9a, autosomal dominant;

Symbol : SPG9A;

CISMeF acronym : SPG9A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux; Cataracts with motor neuronopathy, short stature, and skeletal abnormalities;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the aldehyde dehydrogenase 18 family, member A1 gene (ALDH18A1, 138250.0006);

Laboratory abnormalities : Low plasma levels of citrulline, ornithine, proline, and arginine;

Prefixed ID : #601162;

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02/05/2025


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