Statements (47)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:syndrome
gptkb:genetic_disorder |
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
gptkb:DiGeorge_syndrome
gptkb:22q11.2_deletion_syndrome |
| gptkbp:associatedWith |
gptkb:congenital_heart_disease
short stature hearing loss seizures developmental delay 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 |
| 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 |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Velo-Cardio-Facial Syndrome
|