Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
22q13 deletion syndrome
|
| gptkbp:causedBy |
deletion of 22q13.3 region
mutation in SHANK3 gene |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1985
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Phelan-McDermid syndrome
|
| gptkbp:ICD-10_code |
Q93.5
|
| gptkbp:inheritance |
autosomal dominant
usually de novo |
| gptkbp:namedAfter |
Heather McDermid
Katherine Phelan |
| gptkbp:OMIM |
606232
|
| gptkbp:supportersGroup |
Phelan-McDermid Syndrome Foundation
|
| gptkbp:symptom |
gptkb:autism_spectrum_disorder
hypotonia intellectual disability sleep disturbances seizures delayed speech decreased pain sensitivity motor delays |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:22q13.2
|
| gptkbp:bfsLayer |
6
|