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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies

Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies

Summary

Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (NEDITPO) is an autosomal recessive multiple congenital anomaly syndrome characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus (Rahikkala et al., 2022). [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: C19orf61, F17127_1, HBMS, NEDITPO, SMG9
    Summary: SMG9 nonsense mediated mRNA decay factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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