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Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

Summary

Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. The severity is variable (summary by Kour et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GEMIN-5, NEDCAM, GEMIN5
    Summary: gem nuclear organelle associated protein 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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