microdeletion of chromosome 1q44
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:diagnosedBy |
gptkb:FISH
chromosomal microarray |
| gptkbp:hasGeneticCause |
deletion of 1q44 region
|
| gptkbp:hasOrphanetID |
ORPHA:261402
|
| https://www.w3.org/2000/01/rdf-schema#label |
microdeletion of chromosome 1q44
|
| gptkbp:inheritance |
de novo
|
| gptkbp:OMIM |
612337
|
| gptkbp:regulates |
gptkb:AKT3
gptkb:HNRNPU gptkb:ZNF238 |
| gptkbp:symptom |
intellectual disability
seizures microcephaly corpus callosum agenesis facial dysmorphism |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:1q44_microdeletion_syndrome
|
| gptkbp:bfsLayer |
8
|