AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

AADCD

http://purl.bioontology.org/ontology/OMIM/608643

AADCD

AADC DEFICIENCY

DOPA DECARBOXYLASE DEFICIENCY

DDC DEFICIENCY

C1291564

7p11

DDC

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU001897

http://purl.bioontology.org/ontology/OMIM/MTHU036678

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU001896

http://purl.bioontology.org/ontology/OMIM/MTHU001899

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU001919

http://purl.bioontology.org/ontology/OMIM/MTHU001917

http://purl.bioontology.org/ontology/OMIM/MTHU001900

http://purl.bioontology.org/ontology/OMIM/MTHU001915

http://purl.bioontology.org/ontology/OMIM/MTHU001903

http://purl.bioontology.org/ontology/OMIM/MTHU001912

http://purl.bioontology.org/ontology/OMIM/MTHU001927

http://purl.bioontology.org/ontology/OMIM/MTHU037057

http://purl.bioontology.org/ontology/OMIM/MTHU001913

http://purl.bioontology.org/ontology/OMIM/MTHU001920

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU038906

http://purl.bioontology.org/ontology/OMIM/MTHU001898

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU001914

http://purl.bioontology.org/ontology/OMIM/MTHU001902

http://purl.bioontology.org/ontology/OMIM/MTHU001908

http://purl.bioontology.org/ontology/OMIM/MTHU001906

http://purl.bioontology.org/ontology/OMIM/MTHU001904

http://purl.bioontology.org/ontology/OMIM/MTHU001895

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU001926

http://purl.bioontology.org/ontology/OMIM/MTHU001911

http://purl.bioontology.org/ontology/OMIM/MTHU001918

http://purl.bioontology.org/ontology/OMIM/MTHU001916

http://purl.bioontology.org/ontology/OMIM/MTHU001901

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU001928

http://purl.bioontology.org/ontology/OMIM/MTHU001921

http://purl.bioontology.org/ontology/OMIM/MTHU036435

Phenotype description, molecular basis known.

608643

3

pound

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Caused by mutation in the dopa decarboxylase gene (DDC, 107930.0001) [MOLECULAR BASIS]

Drug-induced dyskinesias occur in a subset of patients [MISCELLANEOUS]

Diurnal fluctuation of symptoms [MISCELLANEOUS]

Onset in early infancy [MISCELLANEOUS]

T047