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GENATLAS PHENOTYPE

last update : 28-03-2012

Symbol	KBG
Location	16q24
Name	KBG syndrome
Corresponding gene	ANKRD11
Main clinical features	short stature, macrodontia with fused incisors, characteristic facies (telecanthus, wide eyebrows, brachycephaly), costovertebral anomalies, short metacarpals, short femoral necks, and delayed bone age PMID: 21782149,, with neurologic involvement that includes global developmental delay, seizures, and mental retardation
Genetic determination	autosomal dominant
Related entries	DEL16Q24
Function/system disorder
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		haploinsufficiency
	deletion	haploinsufficiency	microdeletions including the ANKRD11 gene (see DEL16Q243)

Remark(s)