Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:causedBy |
mutation in KMT2D gene
|
| gptkbp:complication |
gptkb:autism_spectrum_disorder
gptkb:brachydactyly congenital heart defects hypotonia scoliosis vision problems hearing loss seizures recurrent infections microcephaly renal anomalies gastrointestinal anomalies strabismus clinodactyly dental anomalies epicanthal folds feeding difficulties joint laxity ptosis cleft palate behavioral problems hypodontia arched eyebrows delayed speech development growth hormone deficiency delayed motor development malocclusion endocrine abnormalities hip dislocation depressed nasal tip large, prominent earlobes long palpebral fissures persistent fingertip pads vertebral anomalies |
| gptkbp:containsGene |
gptkb:KMT2D
|
| gptkbp:frequency |
1 in 32,000 births
|
| https://www.w3.org/2000/01/rdf-schema#label |
Kabuki syndrome type 1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
147920
|
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
intellectual disability
short stature skeletal abnormalities distinctive facial features cardiac anomalies immunological defects |
| gptkbp:synonym |
Niikawa-Kuroki syndrome
|
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:KMT2D
|
| gptkbp:bfsLayer |
7
|