Hypomyelination with atrophy of basal ganglia and cerebellum
Other Names for this Disease
- Leukodystrophy, hypomyelinating, 6
- Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum
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Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent.
Last updated: 3/28/2012
- Leukodystrophy, Hypomyelinating, 6; HLD6. OMIM. 2014; http://omim.org/entry/612438. Accessed 11/13/2014.