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GENATLAS PHENOTYPE

last update : 18-03-2014

Symbol	KMS2
Location	20p12.1
Name	Kabuki syndrome 2
Other name(s)	Kabuki-Make-up syndrome 1
Corresponding gene	MACROD2
Other symbol(s)	KABUK1
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	mental retardation
	ear
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
deletion		unknown	a 250 kb de novo microdeletion in 1 patient, deleting exon 5, not found in 19 other patients

Remark(s)