Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:nervous_system
musculoskeletal system developmental milestones |
| gptkbp:alsoKnownAs |
chromosome 6q27 deletion syndrome
|
| gptkbp:causedBy |
deletion of genetic material on the long arm of chromosome 6 at position q27
|
| gptkbp:diagnosedBy |
chromosomal microarray analysis
|
| gptkbp:firstDescribed |
2007
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
6q27 microdeletion syndrome
|
| gptkbp:inheritance |
usually de novo
|
| gptkbp:locatedOnChromosome |
gptkb:6q27
|
| gptkbp:OMIM |
612363
|
| gptkbp:symptom |
hypotonia
intellectual disability seizures developmental delay microcephaly facial dysmorphism brain malformations |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:6q27_(human)
|
| gptkbp:bfsLayer |
7
|