label: TH-deficient infantile parkinsonism and motor delay
label_lc: th-deficient infantile parkinsonism and motor delay
description: "A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor)."