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GTR Home > Conditions/Phenotypes > Seckel syndrome 5

Seckel syndrome 5

Summary

Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600. [from OMIM]

Available tests

39 tests are in the database for this condition.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCPH4, MCPH9, SCKL5, CEP152
    Summary: centrosomal protein 152

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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