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Fraser syndrome 1

Synonyms
Cryptophthalmos with other malformations; FRAS1-Related Fraser Syndrome

Summary

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations. [from OMIM]

Available tests

51 tests are in the database for this condition.

Clinical tests (51 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FRASRS1, FRAS1
    Summary: Fraser extracellular matrix complex subunit 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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