EIF4A3

eukaryotic translation initiation factor 4A3
OMIM: 608546
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cleft palate, Robin sequence with cleft mandible and limb anomalies, 268305, Richieri-Costa-Pereira syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RICHIERI-COSTA-PEREIRA SYNDROME
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RICHIERI-COSTA-PEREIRA SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Robin sequence with cleft mandible and limb anomalies, 268305, Richieri-Costa-Pereira syndrome, intellectual disability