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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)