NADSYN1

NAD synthetase 1
OMIM: 608285
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845, Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 3 618845