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GENATLAS PHENOTYPE

last update : 13-01-2022

Symbol	HLD23
Location	1p34.1
Name	hypomyelinating leukodystrophy-23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
Corresponding gene	RNF220
Main clinical features	delayed motor development and ataxic gait in early childhood that progresses to spastic paraplegia with loss of ambulation in the first decades of life
Genetic determination	autosomal recessive
Function/system disorder	neurology
	ear
	cardiovascular
Type	disease

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