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Simpson-Golabi-Behmel syndrome type 2

Summary

Simpson-Golabi-Behmel syndrome type 2 (SGBS2) is an X-linked recessive disorder in which affected males have severely impaired intellectual development, ciliary dyskinesia, and macrocephaly (summary by Budny et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Simpson-Golabi-Behmel syndrome, see 312870. [from OMIM]

Available tests

87 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (87 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 71-7A, CXorf5, JBTS10, RP23, SGBS2, OFD1
    Summary: OFD1 centriole and centriolar satellite protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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