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References OMIM Gene GeneReviews HGMD HGNC
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