KYNU

PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 2 617661
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism), VACTERL-like phenotype, multiple congenital malformations, ?Hydroxykynureninuria, 236800
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Hydroxykynureninuria, 236800, multiple congenital malformations, VACTERL-like phenotype, Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)