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GENATLAS PHENOTYPE

last update : 05-07-2017

Symbol	HLD13
Location	11q14.2
Name	hypomyelinating leukodystrophy-13
Corresponding gene	HIKESHI
Main clinical features	neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging, and in any cases vermian atrophy and epilepsy also lower limb spasticity, optic atrophy, nystagmus, with severe developmental delay
Genetic determination	autosomal recessive
Function/system disorder	neurology
	mental retardation
Type	disease

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