PACS1 Neurodevelopmental Disorder
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
neurological disorder |
| gptkbp:alsoKnownAs |
gptkb:Schuurs-Hoeijmakers_syndrome
|
| gptkbp:associatedWith |
gptkb:PACS1
|
| gptkbp:firstDescribed |
2012
|
| https://www.w3.org/2000/01/rdf-schema#label |
PACS1 Neurodevelopmental Disorder
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
PACS1 gene
|
| gptkbp:OMIM |
615009
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
distinct facial features
intellectual disability developmental delay speech delay |
| gptkbp:bfsParent |
gptkb:PACS-1
|
| gptkbp:bfsLayer |
8
|