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

• ICD10CM:E75.2
• OMIM:612438
• ORDO:139441

Ontology

Human Disease   ( DOID:0060798 )