macrocephaly-autism syndrome
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:associatedWith |
PTEN gene mutation
|
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:firstDescribed |
1997
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
macrocephaly-autism syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
605309
|
| gptkbp:otherName |
autism-macrocephaly syndrome
macrocephaly-autistic syndrome |
| gptkbp:symptom |
gptkb:autism_spectrum_disorder
developmental delay macrocephaly |
| gptkbp:bfsParent |
gptkb:HGNC:9817
|
| gptkbp:bfsLayer |
7
|