Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
2q31 deletion syndrome
|
| gptkbp:associatedWith |
gptkb:HOXD_gene_cluster
|
| gptkbp:causedBy |
microdeletion of 2q31 region
|
| gptkbp:diagnosedBy |
chromosomal microarray analysis
|
| gptkbp:firstDescribed |
2007
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
2q31 microdeletion syndrome
|
| gptkbp:inheritance |
usually de novo
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_2q31
|
| gptkbp:OMIM |
612313
|
| gptkbp:symptom |
intellectual disability
developmental delay congenital anomalies limb malformations facial dysmorphism |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:chromosome_2q31
|
| gptkbp:bfsLayer |
7
|