NFIA

nuclear factor I A
OMIM: 600727
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brain malformations with or without urinary tract defects, 613735, BRMUTD, Intellectual disability, Chromosome 1p32-p31 deletion syndrome, included