subcortical band heterotopia
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurological disorder
malformation of cortical development |
| gptkbp:affects |
females more than males
|
| gptkbp:alsoKnownAs |
double cortex syndrome
|
| gptkbp:associatedWith |
DCX gene mutation
LIS1 gene mutation |
| gptkbp:category |
rare disease
brain malformation |
| gptkbp:causedBy |
mutations in the DCX gene
mutations in the LIS1 gene |
| gptkbp:characterizedBy |
bands of gray matter located between the cortex and ventricular walls
|
| gptkbp:diagnosedBy |
MRI
|
| gptkbp:firstDescribed |
1989
|
| gptkbp:hasPhenotype |
seizures
variable cognitive impairment |
| https://www.w3.org/2000/01/rdf-schema#label |
subcortical band heterotopia
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:MeSH_ID |
D020767
|
| gptkbp:OMIM |
300067
|
| gptkbp:symptom |
epilepsy
intellectual disability developmental delay |
| gptkbp:treatment |
antiepileptic drugs
|
| gptkbp:UMLS_CUI |
C0344315
|
| gptkbp:bfsParent |
gptkb:DCX
|
| gptkbp:bfsLayer |
8
|