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Kabuki syndrome

2 OMIM references -
2 associated genes
55 signs/symptoms

PROTEIN INTERACTIONS: 1

Distal myopathy with vocal cord weakness

1 OMIM reference -
1 associated gene
No signs/symptoms info

Kabuki syndrome

Distal myopathy with vocal cord weakness

KDM6A	(UniProt - OMIM)		MATR3	(UniProt - OMIM)
KMT2D	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KDM6A	(0.63)	MATR3

Citations in the biomedical literature:

Kabuki syndrome		Distal myopathy with vocal cord weakness
	Synonym(s): - Kabuki make-up syndrome - Niikawa-Kuroki syndrome		Synonym(s): (no synonyms)

	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 genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

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

Kabuki syndrome
	Very frequent - Abnormal dermatoglyphics - Abnormal vertebral size / shape - Autosomal dominant inheritance - Ectropion / entropion / eyelid eversion - High arched eyebrows - Intellectual deficit / mental / psychomotor retardation / learning disability - 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 - Cardiac septal defect - 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 - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Hydrocephaly - Hyperextensible joints / articular hyperlaxity - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Microcephaly - Ptosis - Scoliosis - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Strabismus / squint - Tooth shape anomaly Occasional - Agenesis / hypoplasia / aplasia of kidneys - Diaphragmatic hernia / defect / agenesis - Ectopic / horseshoe / fused kidneys - EEG anomalies - Expressionless face / amimia - Generalized obesity - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypospadias / epispadias / bent penis - Lip pits / fistulae - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcornea - Micropenis / small penis / agenesis - Nystagmus - Preauricular / branchial tags / appendages - Precocious puberty - Retinoschisis / retinal / chorioretinal coloboma - Seizures / epilepsy / absences / spasms / status epilepticus - Small hand / acromicria - Undescended / ectopic testes / cryptorchidia / unfixed testes
Distal myopathy with vocal cord weakness
(no data available)