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GENATLAS PHENOTYPE

last update : 04-04-2013

Symbol	DEL9Q21
Location	9q21.13
Name	chromosome 9q21 microdeletions
Corresponding gene	RORB
Main clinical features	significant developmental delay, epilepsy, neuro-behavioural disorders and recognizable facial features including hypertelorism, feature-less philtrum, and a thin upper lip, PMID:23279911
Genetic determination	chromosomal
Prevalence	13 cases
Function/system disorder
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	deletion	haploinsufficiency	deletions with different breakpoints and of variable lengths;the 750 kb smallest overlapping deleted region includes four genes

Remark(s)

RORB is a strong candidate for a neurological phenotype