Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
both males and females
|
| gptkbp:alsoKnownAs |
gptkb:Cat_cry_syndrome
gptkb:Cri_du_chat_syndrome |
| gptkbp:causedBy |
deletion of short arm of chromosome 5
|
| gptkbp:diagnosedBy |
gptkb:FISH_test
karyotype analysis |
| gptkbp:firstDescribed |
gptkb:Jérôme_Lejeune
1963 |
| https://www.w3.org/2000/01/rdf-schema#label |
5p- syndrome
|
| gptkbp:ICD-10_code |
Q93.4
|
| gptkbp:inheritance |
usually not inherited
de novo mutation |
| gptkbp:namedAfter |
chromosome 5 short arm deletion
|
| gptkbp:OMIM |
123450
|
| gptkbp:prevalence |
1 in 15,000 to 50,000 live births
|
| gptkbp:symptom |
intellectual disability
microcephaly distinctive facial features high-pitched cat-like cry delayed development |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:Cri-du-chat_syndrome
|
| gptkbp:bfsLayer |
6
|