Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:associatedWith |
gptkb:KMT2D
gptkb:NSD1 gptkb:CREBBP gptkb:EP300 gptkb:APC2 gptkb:SETD2 gptkb:EZH2 gptkb:PTEN gptkb:DNMT3A gptkb:KMT2A GRB10 NFIX NSD2 BRWD3 PHF6 |
| gptkbp:causedBy |
gptkb:genetic_disorder
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
617921
|
| gptkbp:similarTo |
gptkb:Sotos_syndrome
|
| gptkbp:symptom |
gptkb:intellectual_disability
hypotonia developmental delay macrocephaly distinctive facial features overgrowth behavioral problems advanced bone age |
| gptkbp:bfsParent |
gptkb:KMT3B
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sotos-like syndrome
|