PCBD1

pterin-4 alpha-carbinolamine dehydratase 1
OMIM: 126090
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070
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
Hyperphenylalaninemia, BH4-deficient, D
R-numbers: R141
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphenylalaninemia, BH4-deficient, D, 264070, Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)