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chorea, childhood-onset, with psychomotor retardation

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description An autosomal recessive neurodevelopmental disorder characterized by abnormal involuntary movements, marked speech delay, intellectual disability and learning difficulties.
Mondo Term and Equivalent IDs
MONDO:0014839:  chorea, childhood-onset, with psychomotor retardation
UMLS:C4310787: