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GTR Home > Conditions/Phenotypes > Megacystis-microcolon-intestinal hypoperistalsis syndrome 4

Megacystis-microcolon-intestinal hypoperistalsis syndrome 4

Summary

Megacystis-microcolon-intestinal hypoperistalsis syndrome-4 (MMIHS4) is a severe early-onset disorder characterized by impaired smooth muscle contractility in the bladder and intestines (Kandler et al., 2020). For a discussion of genetic heterogeneity of MMIHS, see 249210. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LC20, MLC-2C, MLC2, MMIHS4, MRLC1, MYRL2, MYL9
    Summary: myosin light chain 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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