Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
brain development
|
| gptkbp:alsoKnownAs |
congenital variant Rett syndrome
|
| gptkbp:category |
gptkb:neurological_disorder
gptkb:rare_disease |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2005
|
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
ORPHA:210548
|
| gptkbp:inheritance |
de novo
|
| gptkbp:locatedOnChromosome |
14q12
|
| gptkbp:mutationAssociatedWith |
FOXG1 gene
|
| gptkbp:namedAfter |
FOXG1 gene
|
| gptkbp:OMIM |
613454
|
| gptkbp:onset |
infancy
|
| gptkbp:symptom |
gptkb:intellectual_disability
movement disorders seizures developmental delay microcephaly autistic features impaired speech |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:Rett_syndrome
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
FOXG1 syndrome
|