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FG syndrome 2

Summary

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (305450). [from OMIM]

Available tests

85 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (85 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD, FLNA
    Summary: filamin A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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