velocardiofacial syndrome

URI: https://gptkb.org/entity/velocardiofacial_syndrome

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:syndrome gptkb:genetic_disorder
gptkbp:affects	multiple organ systems
gptkbp:alsoKnownAs	gptkb:DiGeorge_syndrome gptkb:22q11.2_deletion_syndrome
gptkbp:canBeDeNovo	true
gptkbp:causedBy	deletion on chromosome 22q11.2
gptkbp:diagnosedBy	gptkb:FISH_test genetic testing microarray analysis
gptkbp:firstDescribed	gptkb:Angelo_DiGeorge 1968
gptkbp:frequency	1 in 4000 live births
gptkbp:ICD-10_code	D82.1
gptkbp:inheritance	autosomal dominant
gptkbp:OMIM	192430
gptkbp:prevalence	gptkb:rare_disease
gptkbp:riskFactor	gptkb:autism_spectrum_disorder schizophrenia
gptkbp:supportersGroup	22q Family Foundation VCFS Educational Foundation
gptkbp:symptom	distinct facial features heart defects developmental delay learning difficulties cleft palate immune deficiency psychiatric disorders speech difficulties
gptkbp:treatment	special education speech therapy psychological support surgical intervention symptomatic management
gptkbp:bfsParent	gptkb:DiGeorge_syndrome gptkb:22q11.21 gptkb:22q11.2_deletion_syndrome gptkb:chromosome_22q11.22 gptkb:UFD1L
gptkbp:bfsLayer	8
https://www.w3.org/2000/01/rdf-schema#label	velocardiofacial syndrome