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GTR Home > Conditions/Phenotypes > Meier-Gorlin syndrome 4

Meier-Gorlin syndrome 4

Summary

Meier-Gorlin syndrome-4 (MGORS4) is a rare autosomal recessive disorder with the hallmarks of short stature, small external ears, and reduced or absent patellae. Breast hypoplasia is present in females (Guernsey et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690. [from OMIM]

Available tests

33 tests are in the database for this condition.

Clinical tests (32 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: DUP, RIS2, CDT1
    Summary: chromatin licensing and DNA replication factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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