ARFGEF1

ADP ribosylation factor guanine nucleotide exchange factor 1
OMIM: 604141
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 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability, MONDO:0001071, Epilepsy, MONDO:0005027