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hypomyelinating leukodystrophy 6
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease hypomyelinating leukodystrophy
External Links
- Disease Ontology
- DOID:0060798
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase |
