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GENATLAS PHENOTYPE

last update : 02-01-2017

Symbol	KMS3
Location	Xp11.3
Name	Kabuki syndrome 3
Corresponding gene	KDM6A
Other symbol(s)	KABUK2
Main clinical features	mental retardation, postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, 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, recurrent otitis and in any cases cardiovascular malformation, coloboma, and other ophtalmologic anomalies
Genetic determination	not applicable
Function/system disorder	ear
	mental retardation
Type	disease

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