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GTR Home > Conditions/Phenotypes > Meckel syndrome, type 3

Meckel syndrome, type 3

Synonyms
MECKEL-GRUBER SYNDROME, TYPE 3; TMEM67-Related Meckel Syndrome

Summary

Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000). [from OMIM]

Available tests

67 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (67 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, TMEM67
    Summary: transmembrane protein 67

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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