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Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction

Summary

Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction (NEDRSO) is an autosomal recessive disorder characterized by onset of progressive motor abnormalities in early childhood after normal early development. Affected individuals show regression of motor function with axial hypotonia, appendicular spasticity, and ataxic gait or loss of ambulation; some never achieve walking. Additional features include poor coordination, dystonia, oromotor dysfunction, poor speech with dysarthria, ocular defects (in about half), and variably impaired intellectual development. Short stature and small head circumference or microcephaly are observed. Brain imaging often shows progressive cerebellar atrophy, sometimes with other findings such as basal ganglia abnormalities (Frost et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDRSO, PTFalpha, SNAP190, SNAPC4
    Summary: small nuclear RNA activating complex polypeptide 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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