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Seckel syndrome 4

Summary

Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002). For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600. [from OMIM]

Available tests

37 tests are in the database for this condition.

Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BM032, CENP-J, CPAP, LAP, LIP1, MCPH6, SASS4, SCKL4, Sas-4, CENPJ
    Summary: centromere protein J

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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