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GTR Home > Conditions/Phenotypes > Infantile-onset generalized dyskinesia with orofacial involvement

Infantile-onset generalized dyskinesia with orofacial involvement

Synonyms
Dyskinesia, limb and orofacial, infantile-onset

Summary

Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016). [from OMIM]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADSD2, HSPDE10A, IOLOD, LINC00473, PDE10A19, PDE10A
    Summary: phosphodiesterase 10A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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