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Metadata
ID DOID:0090123
Name aromatic L-amino acid decarboxylase deficiency
Definition An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.
https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency, https://www.omim.org/entry/608643
Xrefs

GARD:770

OMIM:608643

ORDO:35708

UMLS_CUI:C1291564

Synonyms

AADC deficiency [EXACT]

Parent Relationships

is_a inherited metabolic disorder

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