Hypomyelinating Leukodystrophy 6
Disease ID: disease_node_19937
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E75.2, MIM:612438, ORDO:139441 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060786 |
| Data Source | DOID |
| Synonyms | H-ABC, HABC, HLD6, hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, hypomyelination with atrophy of basal ganglia and cerebellum |
| Doid Label | hypomyelinating leukodystrophy 6 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19937 |
| Doid Id | DOID_0060798 |
| Label | Hypomyelinating Leukodystrophy 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hypomyelinating Leukodystrophy(ID:disease_node_19923) (Disease)