Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:syndrome
gptkb:disease |
| gptkbp:affects |
gptkb:nervous_system
blood |
| gptkbp:causedBy |
gptkb:genetic_disorder
|
| gptkbp:containsGene |
gptkb:XK
VPS13A |
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
ORPHA:98849
|
| gptkbp:ICD-10_code |
G25.8
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:OMIM |
200150
300842 |
| gptkbp:onset |
adulthood
|
| gptkbp:otherName |
NA syndromes
neuroacanthocytosis syndrome neuroacanthocytosis syndromes |
| gptkbp:signature |
acanthocytosis
spiculated red blood cells |
| gptkbp:subspecies |
Chorea-acanthocytosis
McLeod syndrome |
| gptkbp:symptom |
gptkb:movement_disorder
cognitive decline muscle weakness seizures dystonia chorea dysphagia psychiatric symptoms dysarthria |
| gptkbp:treatment |
supportive care
symptomatic treatment |
| gptkbp:bfsParent |
gptkb:Huntington's_disease-like_syndrome
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
neuroacanthocytosis
|