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GENATLAS PHENOTYPE

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
	neurology
Type	disease

Remark(s)

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))