TH-deficient infantile parkinsonism and motor delay
MONDO:0100065Mondo
Findings
No curated finding names TH-deficient infantile parkinsonism and motor delay yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0100065), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: TH-deficient infantile parkinsonism and motor delay
- Also called
- tyrosine hydroxylase infantile parkinsonism and motor delay