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ENLeukodystrophy, Hypomyelinating, 6 (HLD6)
Alias:
Hypomyelinating Leukodystrophy 6
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum
H-Abc
Hld6
Habc
Hypomyelinating Leukodystrophy with Atrophy of the Basal Ganglia and Cerebellum
Leukodystrophy, Hypomyelinating, with Atrophy of the Basal Ganglia and Cerebellum
Leukodystrophy, Hypomyelinating, Type 6
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Leukodystrophy, Hypomyelinating, 6, also known as hypomyelinating leukodystrophy 6, is related to dystonia 4, torsion, autosomal dominant and dystonia, and has symptoms including ataxia, muscle rigidity and muscle spasticity. An important gene associated with Leukodystrophy, Hypomyelinating, 6 is TUBB4A (Tubulin Beta 4A Class IVa), and among its related pathways/superpathways are Cell Cycle, Mitotic and Vesicle-mediated transport. Affiliated tissues include cerebellum and brain, and related phenotypes are spasticity and dysarthria
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