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GTR Home > Conditions/Phenotypes > Meckel syndrome, type 2

Meckel syndrome, type 2

Synonyms
MECKEL-GRUBER SYNDROME, TYPE 2; MKS2-Related Meckel Syndrome; TMEM216-Related Meckel Syndrome

Summary

Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000). [from OMIM]

Available tests

43 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSPC244, RP98, TMEM216
    Summary: transmembrane protein 216

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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