Hypomyelinating Leukodystrophy-6

**Semantic type:** Disease or Syndrome

**Definition:** A genetic disorder of infancy or early childhood caused by mutation(s) in the TUBB4A gene, encoding the tubulin beta-4A chain. It is characterized by hypomyelination or atrophy of the cerebellum and or putamen leading to delayed motor development, gait instability, and extrapyramidal movement disorders.

**Synonyms:** - HABC - HLD6 - Hypomyelination with Atrophy of Basal Ganglia and Cerebellum