Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
both males and females
|
| gptkbp:alsoKnownAs |
gptkb:cri_du_chat_syndrome
|
| gptkbp:causedBy |
deletion on chromosome 5p
|
| gptkbp:characteristic |
cat-like cry in infants
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Jérôme_Lejeune
1963 |
| https://www.w3.org/2000/01/rdf-schema#label |
cat cry syndrome
|
| gptkbp:ICD-10_code |
Q93.4
|
| gptkbp:inheritance |
not usually inherited
|
| gptkbp:MeSH_ID |
D003430
|
| gptkbp:OMIM |
123450
|
| gptkbp:prevalence |
1 in 20,000 to 50,000 live births
|
| gptkbp:symptom |
intellectual disability
microcephaly distinctive facial features low birth weight high-pitched cry |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Cri-du-chat_syndrome
|
| gptkbp:bfsLayer |
6
|