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GTR Home > Conditions/Phenotypes > Microcephaly 4, primary, autosomal recessive

Microcephaly 4, primary, autosomal recessive

Summary

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). [from OMIM]

Available tests

16 tests are in the database for this condition.

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Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AF15Q14, CASC5, CT29, D40, MCPH4, PPP1R55, Spc7, hKNL-1, hSpc105, KNL1
    Summary: kinetochore scaffold 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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