DO_rare_slim NCIthesaurus has symptom disease has basis in aromatic L-amino acid decarboxylase deficiency MIM:608643 ORDO:35708 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. ICD10CM:E70.81 SNOMEDCT_US_2025_09_01:124600004 disease_ontology MESH:C537437 GARD:770 DOID:0090123 NCI:C142085 UMLS_CUI:C1291564 AADC deficiency inherited metabolic disorder structural_variant ptosis