Cornelia de Lange syndrome

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder
gptkbp:affects	both males and females
gptkbp:alsoKnownAs	gptkb:CdLS
gptkbp:category	gptkb:syndrome gptkb:developmental_disorder gptkb:rare_disease
gptkbp:cause	mutation in HDAC8 gene mutation in NIPBL gene mutation in RAD21 gene mutation in SMC1A gene mutation in SMC3 gene
gptkbp:diagnosedBy	clinical evaluation genetic testing
gptkbp:firstDescribed	gptkb:Cornelia_Catharina_de_Lange 1933
gptkbp:hasOrphanetID	ORPHA199
gptkbp:inheritance	autosomal dominant X-linked dominant
gptkbp:OMIM	122470
gptkbp:prevalence	1 in 10,000 to 30,000 live births
gptkbp:symptom	gptkb:intellectual_disability distinctive facial features behavioral problems limb abnormalities growth delays
gptkbp:treatment	supportive care occupational therapy physical therapy speech therapy early intervention
gptkbp:bfsParent	gptkb:NIPBL gptkb:PDS5B gptkb:RAD21 gptkb:SMC1A gptkb:SMC3 gptkb:cohesin_complex
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	Cornelia de Lange syndrome