Term Name: | aromatic L-amino acid decarboxylase deficiency |
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Synonyms: | AADC 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. |
Ontology: | Human Disease [DOID:0090123] ( DOID:0090123 ) |