Schuurs-Hoeijmakers syndrome
GPTKB entity
Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
PAC syndrome
|
| gptkbp:firstDescribed |
2012
Conny M. A. Hoeijmakers Sjouke Schuurs |
| https://www.w3.org/2000/01/rdf-schema#label |
Schuurs-Hoeijmakers syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
PACSN1 gene
|
| gptkbp:namedAfter |
Conny M. A. Hoeijmakers
Sjouke Schuurs |
| gptkbp:OMIM |
615009
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
intellectual disability
developmental delay distinctive facial features |
| gptkbp:bfsParent |
gptkb:PACS-1
|
| gptkbp:bfsLayer |
8
|