hypomyelinating leukodystrophy 6
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
leukodystrophy |
| gptkbp:affects |
central nervous system
|
| gptkbp:alternativeName |
HLD6
TUBB4A-related leukodystrophy |
| gptkbp:characterizedBy |
spasticity
developmental delay dystonia motor impairment hypomyelination |
| gptkbp:firstDescribed |
2013
|
| gptkbp:hasOrphanetID |
ORPHA:330050
|
| https://www.w3.org/2000/01/rdf-schema#label |
hypomyelinating leukodystrophy 6
|
| gptkbp:ICD-10_code |
E75.26
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
TUBB4A gene
|
| gptkbp:OMIM |
612438
|
| gptkbp:symptom |
intellectual disability
ataxia dysarthria |
| gptkbp:bfsParent |
gptkb:TUBB4A
|
| gptkbp:bfsLayer |
7
|