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Neurodevelopmental disorder with eye movement abnormalities and ataxia

Summary

Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) is characterized by global developmental delay apparent from infancy. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. Abnormal eye movements, which are often noted in early childhood, include opsoclonus, nystagmus, and strabismus. Some patients have seizures, which may be refractory (Lu et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDEMA, FRMD5
    Summary: FERM domain containing 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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