Summary Literature (0)

DOID:0090123 - aromatic L-amino acid decarboxylase deficiency

Disease Ontology Definition:An inherited metabolic disorder characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction with onset in infancy or childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DDC gene on chromosome 7p12.

Synonyms: AADC deficiency,

Echinobase Genes :


OMIM:

MIM:608643 - aromatic l-amino acid decarboxylase deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee