Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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)
