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Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities

Summary

Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades, although earlier onset has been reported. Some patients have seizures. There is inter- and intrafamilial variability (Kuipers et al., 2018; Al-Kasbi et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C2orf79, NEDPBA, PTRHD1
    Summary: peptidyl-tRNA hydrolase domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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