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GENATLAS PHENOTYPE

last update : 30-05-2018

Symbol	PLDECO
Location	11q13.5
Name	leukodystrophy, progressive, early childhood-onset
Corresponding gene	ACER3
Main clinical features	early-onset progressive leukodystrophy; after normal early development, the infants presented between 6 and 13 months of age with developmental stagnation and regression, eventually rendering them unable to communicate and without purposeful movement other neurologic features included truncal hypotonia, appendicular spasticity, dystonia, areflexia, pale optic discs, and neurogenic bladder
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lipoprotein-lipid
	neurology
Type	malformation

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