17q11.2 microdeletion syndrome
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:NF1_microdeletion_syndrome
|
| gptkbp:associatedWith |
gptkb:neurofibromatosis_type_1
|
| gptkbp:causedBy |
microdeletion of chromosome 17q11.2
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1997
|
| gptkbp:frequency |
rare
|
| gptkbp:geneDeleted |
gptkb:NF1
gptkb:RNF135 gptkb:SUZ12 |
| https://www.w3.org/2000/01/rdf-schema#label |
17q11.2 microdeletion syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:17q11.2
|
| gptkbp:OMIM |
613675
|
| gptkbp:symptom |
congenital heart defects
intellectual disability developmental delay overgrowth facial dysmorphism |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:17q11.2
|
| gptkbp:bfsLayer |
7
|