Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
adults
children both males and females |
| gptkbp:alsoKnownAs |
Kabuki make-up syndrome
|
| gptkbp:characterizedBy |
intellectual disability
skeletal abnormalities distinctive facial features growth deficiency dermatoglyphic abnormalities |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1981
Norio Niikawa |
| gptkbp:frequency |
rare
|
| gptkbp:hasNoCure |
true
|
| gptkbp:hasOrphanetID |
KA
|
| https://www.w3.org/2000/01/rdf-schema#label |
Kabuki syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
X-linked dominant |
| gptkbp:MeSH_ID |
D020158
|
| gptkbp:mutationAssociatedWith |
KDM6A gene
KMT2D gene |
| gptkbp:namedAfter |
actor
|
| gptkbp:OMIM |
147920
|
| gptkbp:prevalence |
1 in 32,000
|
| gptkbp:supportersGroup |
Kabuki Syndrome Network
|
| gptkbp:symptom |
gptkb:autism_spectrum_disorder
congenital heart defects hypotonia short stature hearing loss seizures microcephaly renal anomalies dental anomalies feeding difficulties cleft palate joint hypermobility arched eyebrows immunological abnormalities large, protruding earlobes long palpebral fissures persistent fingertip pads |
| gptkbp:treatment |
symptomatic management
multidisciplinary care |
| gptkbp:bfsParent |
gptkb:RAP1A
|
| gptkbp:bfsLayer |
6
|