Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:nervous_system
development |
| gptkbp:causedBy |
mutation in PACS1 gene
|
| gptkbp:containsGene |
gptkb:PACS1
|
| gptkbp:discoveredBy |
gptkb:Schuurs-Hoeijmakers_et_al.
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
PACS-1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
615009
|
| gptkbp:otherName |
gptkb:PACS1_Neurodevelopmental_Disorder
gptkb:Schuurs-Hoeijmakers_syndrome |
| gptkbp:symptom |
intellectual disability
developmental delay speech delay facial dysmorphism |
| gptkbp:bfsParent |
gptkb:Nef_(protein)
|
| gptkbp:bfsLayer |
7
|