Cardiofaciocutaneous syndrome

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder
gptkbp:abbreviation	gptkb:CFC_syndrome
gptkbp:characterizedBy	gptkb:intellectual_disability heart defects developmental delay distinctive facial features feeding difficulties skin abnormalities sparse, brittle hair
gptkbp:firstDescribed	1986
gptkbp:ICD-10_code	Q87.1
gptkbp:inheritance	autosomal dominant
gptkbp:mutationAssociatedWith	gptkb:MAP2K1_gene gptkb:MAP2K2_gene gptkb:BRAF_gene gptkb:KRAS_gene
gptkbp:namedAfter	cardiac, facial, and cutaneous features
gptkbp:OMIM	115150
gptkbp:partOf	gptkb:RASopathy
gptkbp:prevalence	rare
gptkbp:relatedTo	gptkb:Costello_syndrome gptkb:Noonan_syndrome
gptkbp:symptom	gptkb:atrial_septal_defect gptkb:eczema gptkb:gastrointestinal_reflux gptkb:hyperkeratosis gptkb:keratosis_pilaris gptkb:pulmonary_stenosis gptkb:visual_impairment constipation hypotonia short stature hearing loss seizures failure to thrive macrocephaly delayed speech dental anomalies epicanthal folds feeding problems in infancy hyperextensible joints hypertelorism lymphatic dysplasia ptosis sparse eyebrows sparse eyelashes undescended testes (in males)
gptkbp:bfsParent	gptkb:KRAS gptkb:chromosome_12p12.1_(KRAS)
gptkbp:bfsLayer	5
https://www.w3.org/2000/01/rdf-schema#label	Cardiofaciocutaneous syndrome