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GTR Home > Conditions/Phenotypes > Visceral neuropathy, familial, 2, autosomal recessive

Visceral neuropathy, familial, 2, autosomal recessive

Summary

Autosomal recessive visceral neuropathy-2 (VSCN2) is characterized by intestinal dysmotility due to aganglionosis or hypoganglionosis of the colon. Patients also exhibit peripheral axonal neuropathy, ptosis, and sensorineural hearing loss (Le et al., 2021). For a discussion of genetic heterogeneity of VSCN, see VSCN1 (243180). [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: CD340, HER-2, HER-2/neu, HER2, MLN 19, MLN-19, NEU, NGL, TKR1, VSCN2, c-ERB-2, c-ERB2, p185(erbB2), ERBB2
    Summary: erb-b2 receptor tyrosine kinase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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