Statements (27)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
rare disease |
gptkbp:affects |
humans
|
gptkbp:alsoKnownAs |
gptkb:cat_cry_syndrome
5p minus syndrome |
gptkbp:category |
genetic disorder
syndrome |
gptkbp:causedBy |
deletion on chromosome 5p
|
gptkbp:chromosomalAbnormality |
partial deletion of short arm of chromosome 5
|
gptkbp:diagnosedBy |
genetic testing
|
gptkbp:firstDescribed |
gptkb:Jérôme_Lejeune
1963 |
gptkbp:frequency |
rare
|
https://www.w3.org/2000/01/rdf-schema#label |
cri du chat syndrome
|
gptkbp:ICD-10_code |
Q93.4
|
gptkbp:inheritance |
not usually inherited
|
gptkbp:namedAfter |
characteristic cat-like cry
|
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:cat_cry_syndrome
|
gptkbp:bfsLayer |
7
|