U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Seckel syndrome 4

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

36 tests are in the database for this condition.

Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BM032, CENP-J, CENPJ, LAP, LIP1, MCPH6, SASS4, SCKL4, Sas-4, CPAP
    Summary: centrosome assembly and centriole elongation protein

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.