OAT

ornithine aminotransferase
OMIM: 613349
PanelMode of inheritanceDetails
2 panels
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism), Gyrate atrophy of choroid and retina with or without ornithinemia
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders