U.S. flag

An official website of the United States government

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

38 tests are in the database for this condition.

Clinical tests (37 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

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.