TH-deficient infantile parkinsonism and motor delay
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).
MONDO:0100064
tyrosine hydroxylase deficiency
is_a
tyrosine hydroxylase infantile parkinsonism and motor delay
exact