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last update : 05-07-2017
Symbol HABC
Location 19p13.3
Name hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum
Other name(s) leukodystrophy, hypomyelinating, 6
Corresponding gene TUBB4A
Other symbol(s) HLD6
Main clinical features
  • neurologic impairment associated with a distinct brain MRI pattern characterized by hypomyelination and atrophy of the basal ganglia and cerebellum
  • delayed motor development, difficulty walking without support with later deterioration of motor skills, spasticity, dystonia, ataxia, tremor, rigidity, choreoathetosis, dysarthria, and learning disability
  • brain MRI showed a homogeneous picture, with diffuse myelin deficiency, atrophy of the cerebellar vermis, and small or absent putamen
  • Genetic determination not applicable
    Function/system disorder mental retardation
    Type disease
  • mutation identified in individuals with HABC affects gene function in a dominant-negative fashion and leads to the loss of, or inefficient, dimerization of microtubules (PMID: 23582646))