DDC

dopa decarboxylase
OMIM: 107930
PanelMode of inheritanceDetails
4 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643
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
Aromatic L-amino acid decarboxylase deficiency
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY