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GENATLAS PHENOTYPE

last update : 24-01-2022

Symbol	HLD22
Location	3q26.2
Name	leukodystrophy, hypomyelinating, 22
Corresponding gene	CLDN11
Main clinical features	global developmental delay with mildly impaired intellectual development and marked motor impairment with limited or no ability to walk and dysarthria; limb spasticity with pyramidal signs, as well as nystagmus, hypermetropia, and astigmatism brain imaging shows hypomyelination and a delay in myelination, although serial imaging shows some progress in both the central and peripheral white matter regions
Genetic determination	autosomal dominant
Function/system disorder	neurology
	mental retardation
Type	disease

Remark(s)