hypomyelinating leukodystrophy
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
leukodystrophy |
| gptkbp:affects |
central nervous system
|
| gptkbp:characterizedBy |
impaired myelin formation
|
| gptkbp:diagnosedBy |
MRI
|
| gptkbp:firstDescribed |
20th century
|
| gptkbp:hasOrphanetID |
ORPHA:251
|
| https://www.w3.org/2000/01/rdf-schema#label |
hypomyelinating leukodystrophy
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:mutationAssociatedWith |
gptkb:POLR3A
gptkb:POLR3B gptkb:TUBB4A gptkb:PLP1 GJC2 |
| gptkbp:OMIM |
312080
|
| gptkbp:subspecies |
4H leukodystrophy
HLD1 HLD2 HLD6 Pelizaeus-Merzbacher disease |
| gptkbp:symptom |
nystagmus
spasticity ataxia developmental delay motor impairment dysarthria |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:RNA_polymerase_III
|
| gptkbp:bfsLayer |
6
|