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Autosomal recessive congenital cerebellar ataxia
- ... Tests of AMACR PubMed BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 ALPHA-METHYLACYL-CoA RACEMASE; AMACR NCBI Gene ClinVar Dick D, Horvath R, Chinnery PF. AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. Neurology. 2011 May 17;76(20):1768-70. ...
- ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE ... ATAXIA; CMTX4 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one ... cerebellar ataxia, and skeletal dysplasia Saldino-Mainzer dysplasia Saldino-Mainzer ...
- ... Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 2013 Sep; ...
- ... no history of the disorder in their family. Autosomal dominant cases of Gillespie syndrome are ... ataxia, and mental retardation Aniridia-cerebellar ataxia-intellectual disability ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry ... CLN10 Congenital neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 10 Neuronal ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy ... CDGS1a Congenital disorder of glycosylation type Ia Jaeken syndrome Phosphomannomutase ...
- ... patterns. It is most commonly inherited in an autosomal recessive pattern, which means both copies of the gene ... SURF1. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
