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GENATLAS PHENOTYPE

last update : 07-06-2023

Symbol	ACCAL
Location	2p11.2
Name	ataxia, cerebellar and cerebral atrophy, and leukodystrophy
Corresponding gene	POLR1A
Main clinical features	cerebellar ataxia associated with spasticity, intellectual disability, cerebellar and cerebral atrophy, and demyelinating leukodystrophy; ataxic gait and seizures at skin biopsy, cholesterol storage
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
	metabolism/lipoprotein-lipid
Type	malformation

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