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Intestinal dysmotility syndrome

Summary

Intestinal dysmotility syndrome (IDMTS) is an autosomal recessive disorder characterized by impaired intestinal motility resulting in episodes of diarrhea and distention of intestinal loops. Intestinal and hepatic portal venous gas, similar to findings seen in necrotizing enterocolitis, may be present. Dysmorphic features and developmental delay may also be present (Park et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DOG1, INDMS, MYMY7, ORAOV2, TAOS2, TMEM16A, ANO1
    Summary: anoctamin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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