Compound: FDB021931 (Vanillylmandelic acid)
Term: Aromatic l-amino acid decarboxylase deficiency
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. (do).
Parent Term: Health condition
Parent Definition: A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.
Synonyms
Other Compounds Mapped to 'Aromatic l-amino acid decarboxylase deficiency'