Kabuki syndrome 2

Preferred Label : Kabuki syndrome 2;

Symbol : KABUK2;

CISMeF acronym : KABUK2;

Type : Phenotype, molecular basis known;

Description : Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (147920).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the lysine (K)-specific demethylase-6A gene (KDM6A, 300128.0001);

Prefixed ID : #300867;

Details

Origin ID

300867;

UMLS CUI

C3275495;

Automatic exact mappings (from CISMeF team)
- KDM6A wt Allele [NCIt concept]
DO Cross reference
- Kabuki syndrome [DO Concept]
Genes related to phenotype
- Lysine demethylase 6a [OMIM gene]
HPO term(s)
- Areolar fullness [HPO term]
- Atrial septal defect [HPO term]
- Atrioventricular canal defect [HPO term]
- Behavioral abnormality [HPO term]
- Blue sclerae [HPO term]
- Brachydactyly [HPO term]
- Broad nasal tip [HPO term]
- Central hypotonia [HPO term]
- Cleft palate [HPO term]
- Coarctation of aorta [HPO term]
- Cupped ear [HPO term]
- Decreased body weight [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal tip [HPO term]
- Epicanthus [HPO term]
- Eversion of lateral third of lower eyelids [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hip dislocation [HPO term]
- Hirsutism [HPO term]
- Horseshoe kidney [HPO term]
- Hypodontia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint laxity [HPO term]
- Long eyelashes [HPO term]
- Long palpebral fissure [HPO term]
- Low-set ears [HPO term]
- Lower lip pit [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Natal tooth [HPO term]
- Neonatal hypoglycemia [HPO term]
- Nystagmus [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent fingertip pads [HPO term]
- Protruding ear [HPO term]
- Pulmonic stenosis [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Short 5th finger [HPO term]
- Short columella [HPO term]
- Short stature [HPO term]
- Sparse lateral eyebrow [HPO term]
- Strabismus [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Kabuki syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Kabuki syndrome [DO Concept]

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