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GTR Home > Conditions/Phenotypes > Houge-Janssens syndrome 3

Houge-Janssens syndrome 3

Synonyms
Neurodevelopmental disorder and language delay with or without structural brain abnormalities

Summary

Houge-Janssens syndrome-3 (HJS3) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy (summary by Reynhout et al., 2019). For a discussion of genetic heterogeneity of HJS, see HJS1 (616355). [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HJS3, NEDLBA, PP2Ac, PP2CA, PP2Calpha, RP-C, PPP2CA
    Summary: protein phosphatase 2 catalytic subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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