developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
MONDO:0971062Mondo
Findings
No curated finding names developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism in which the cause of the disease is a point mutation in the gene NR4A2.
Definition from the Mondo Disease Ontology (MONDO:0971062), read 2026-09-29. CC BY 4.0.