Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
gptkb:4p-_syndrome
|
| gptkbp:category |
genetic disorder
rare disease |
| gptkbp:causedBy |
deletion of short arm of chromosome 4
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Kurt_Hirschhorn
gptkb:Ulrich_Wolf 1965 |
| https://www.w3.org/2000/01/rdf-schema#label |
Wolf-Hirschhorn syndrome
|
| gptkbp:ICD-10_code |
Q93.5
|
| gptkbp:inheritance |
rarely inherited
usually de novo |
| gptkbp:OMIM |
194190
|
| gptkbp:organization |
gptkb:4p-_Support_Group
gptkb:Wolf-Hirschhorn_Syndrome_Trust |
| gptkbp:prevalence |
1 in 50,000 births
|
| gptkbp:symptom |
intellectual disability
seizures skeletal abnormalities distinctive facial features growth delay |
| gptkbp:treatment |
symptomatic and supportive care
|
| gptkbp:bfsParent |
gptkb:chromosome_4
|
| gptkbp:bfsLayer |
6
|