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GENATLAS PHENOTYPE

last update : 19-09-2012

Symbol	DEL5Q31.3
Location	5q31.3
Name	chromosome 5q31.3 microdeletion
Corresponding gene	NRG2 , PURA
Main clinical features	severe neonatal hypotonia, neonatal feeding difficulties, respiratory distress, characteristic facial features and severe developmental delay, PMID: 22711443
Genetic determination	chromosomal
Function/system disorder
Type	MCA/MR

Remark(s)