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Human Disease

hypomyelinating leukodystrophy 6

Term ID
DOID:0060798
Synonyms
  • H-ABC
  • HABC
  • HLD6
  • hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum
  • hypomyelination with atrophy of basal ganglia and cerebellum
Definition
A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/23582646
References
Ontology
Human Disease   ( DOID:0060798 )
Relationships
is a type of
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Genes Involved
Zebrafish Models