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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with impaired speech and hyperkinetic movements

Neurodevelopmental disorder with impaired speech and hyperkinetic movements

Summary

Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate (summary by Khan et al., 2019). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HA4654, NEDISHM, pHZ-49, ZNF142
    Summary: zinc finger protein 142

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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