Statements (47)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
gptkb:DiGeorge_syndrome
gptkb:22q11.2_deletion_syndrome |
| gptkbp:associatedWith |
short stature
hearing loss seizures developmental delay congenital heart disease feeding difficulties learning difficulties immune deficiency hypocalcemia growth hormone deficiency kidney abnormalities hypernasal speech dysmorphic facial features palatal abnormalities psychiatric illness |
| gptkbp:causedBy |
deletion on chromosome 22q11.2
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Angelo_DiGeorge
1968 |
| https://www.w3.org/2000/01/rdf-schema#label |
Velo-Cardio-Facial Syndrome
|
| gptkbp:ICD-10_code |
D82.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
192430
|
| gptkbp:prevalence |
1 in 4000 live births
|
| gptkbp:riskFactor |
gptkb:autism_spectrum_disorder
schizophrenia anxiety disorders psychiatric disorders |
| gptkbp:symptom |
distinct facial features
learning disabilities heart defects developmental delay cleft palate speech difficulties immune system problems |
| gptkbp:treatment |
special education
speech therapy surgical intervention symptomatic management |
| gptkbp:bfsParent |
gptkb:Life_with_VCFS_documentary
|
| gptkbp:bfsLayer |
7
|