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GENATLAS PHENOTYPE

last update : 26-04-2012

Symbol	DEL17Q24
Location	17q24.2
Name	chromosome 17q24.2 microdeletion syndrome
Corresponding gene	PRKCA
Main clinical features	intellectual disability (4/4), speech delay (4/4), truncal obesity (4/4), seizures (2/4), hearing loss (3/4) and a particular facial gestalt. Hallucinations and mood swings were also noted in two patients PMID: 22166941
Genetic determination	chromosomal
Prevalence	4 patients described
Function/system disorder
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	deletion		with a smallest region of overlap of 713 kb containing five Refseq genes and one miRNA

Remark(s)