Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
gptkb:5p-_syndrome
gptkb:cat_cry_syndrome |
| gptkbp:category |
genetic disorder
syndrome |
| gptkbp:causedBy |
deletion on the short arm of chromosome 5
|
| gptkbp:chromosomeAffected |
gptkb:chromosome_5
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Jérôme_Lejeune
1963 |
| gptkbp:frequency |
rare
|
| gptkbp:geneticChange |
partial deletion of 5p
|
| https://www.w3.org/2000/01/rdf-schema#label |
Cri du chat syndrome
|
| gptkbp:ICD-10_code |
Q93.4
|
| gptkbp:inheritance |
usually not inherited
de novo mutation |
| gptkbp:notableFeature |
cry resembles a cat
|
| gptkbp:OMIM |
123450
|
| gptkbp:prevalence |
1 in 20,000 to 50,000 live births
|
| gptkbp:symptom |
hypotonia
intellectual disability microcephaly distinctive facial features low birth weight high-pitched cat-like cry |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:5p-_syndrome
|
| gptkbp:bfsLayer |
7
|