DDC

dopa decarboxylase
OMIM: 107930
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 4.0
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084