Statements (31)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:affects |
humans
|
gptkbp:alsoKnownAs |
gptkb:5p-_syndrome
gptkb:cat_cry_syndrome |
gptkbp:category |
genetic disorder
syndrome rare disease |
gptkbp:causedBy |
deletion of the short arm of chromosome 5
|
gptkbp:chromosomeAffected |
gptkb:chromosome_5
|
gptkbp:diagnosedBy |
gptkb:FISH_(fluorescence_in_situ_hybridization)
karyotype analysis chromosomal microarray |
gptkbp:firstDescribed |
gptkb:Jérôme_Lejeune
1963 |
https://www.w3.org/2000/01/rdf-schema#label |
Cri-du-chat syndrome
|
gptkbp:ICD-10_code |
Q93.4
|
gptkbp:inheritance |
usually not inherited
|
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:chromosome_5
|
gptkbp:bfsLayer |
5
|