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GENATLAS PHENOTYPE

last update : 01-09-2010

Symbol	DEL17P13D
Location	17p13.33
Name	chromosome 17p13 deletion, distal to PAFAH1B1 involving YWHAE.
Corresponding gene	YWHAE
Other symbol(s)	DEL17P13
Main clinical features	mild mental retardation, moderate to severe growth restriction, white matter abnormalities and developmental defects including Chiari type 1 malformation and coloboma (Schiff 2010)
Genetic determination	chromosomal
Function/system disorder
Type	MCA/MR

Remark(s)

reciprocal microduplications associated with autism