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Metadata
DOID DOID:0060798
Name hypomyelinating leukodystrophy 6
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
Synonyms

H-ABC [EXACT]

HABC [EXACT]

HLD6 [EXACT]

hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum [EXACT]

hypomyelination with atrophy of basal ganglia and cerebellum [EXACT]

Xrefs

ICD10CM:E75.2

OMIM:612438

ORDO:139441

Relationships

is_a hypomyelinating leukodystrophy

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