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Kabuki syndrome

2 OMIM references -
2 associated genes
55 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 13

8p23.1 microdeletion syndrome

1 associated gene
37 signs/symptoms

Kabuki syndrome

8p23.1 microdeletion syndrome

KDM6A	(UniProt - OMIM)		GATA4	(UniProt - OMIM)
KMT2D	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KDM6A	(0.63)	GATA4

Citations in the biomedical literature:

Kabuki syndrome		8p23.1 microdeletion syndrome
	Synonym(s): - Kabuki make-up syndrome - Niikawa-Kuroki syndrome		Synonym(s): - Del(8)(p23.1) - Monosomy 8p23.1

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 2 OMIM references - 1 MeSH reference: C537705		External references: No OMIM references No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Cardiac septal defect - Diaphragmatic hernia / defect / agenesis - Failure to thrive / difficulties for feeding in infancy / growth delay - Generalized obesity - High vaulted / narrow palate - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes

Kabuki syndrome		8p23.1 microdeletion syndrome
	Very frequent - Abnormal dermatoglyphics - Abnormal vertebral size / shape - Ectropion / entropion / eyelid eversion - High arched eyebrows - Lateral thinning of eyebrows - Long / large ear - Long / thick / curved lashes / trichomegaly / polytrichia - Prominent / bat ears - Short columella / depressed nasal tip - Short hand / brachydactyly Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia - Blue sclerae - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Complete / partial microdontia - Conductive deafness / hearing loss - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dilated cerebral ventricles without hydrocephaly - Hydrocephaly - Hyperextensible joints / articular hyperlaxity - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Ptosis - Scoliosis - Sensorineural deafness / hearing loss - Strabismus / squint - Tooth shape anomaly Occasional - Agenesis / hypoplasia / aplasia of kidneys - Ectopic / horseshoe / fused kidneys - EEG anomalies - Expressionless face / amimia - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Lip pits / fistulae - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcornea - Micropenis / small penis / agenesis - Nystagmus - Preauricular / branchial tags / appendages - Precocious puberty - Retinoschisis / retinal / chorioretinal coloboma - Small hand / acromicria		Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intrauterine growth retardation Frequent - Atrioventricular canal - Broad nose / nasal bridge - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - External ear anomalies - High forehead - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Narrow forehead - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Short neck - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad / bifid big toe - Broad / bifid thumb - Cardiomyopathy / hypertrophic / dilated - Deepset eyes / enophthalmos - Hypoplastic left heart / ventricle - Patent ductus arteriosus - Proximally set thumb - Tetralogy of Fallot / trilogy of Fallot - Transposition of great vessels