Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:causedBy |
mutation in KMT2D gene
|
| gptkbp:complication |
gptkb:autism_spectrum_disorder
gptkb:malocclusion gptkb:brachydactyly gptkb:strabismus congenital heart defects hypotonia scoliosis vision problems hearing loss seizures recurrent infections microcephaly renal anomalies gastrointestinal anomalies 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 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
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
147920
|
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb: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
|
| https://www.w3.org/2000/01/rdf-schema#label |
Kabuki syndrome type 1
|