HAAO

3-hydroxyanthranilate 3,4-dioxygenase
OMIM: 604521
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NAD deficiency disorder
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 1 617660
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital malformations, VACTERL-like phenotype
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital malformations, VACTERL-like phenotype
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 1, OMIM:617660