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GTR Home > Conditions/Phenotypes > Microcephaly 17, primary, autosomal recessive

Microcephaly 17, primary, autosomal recessive

Summary

Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CITK, CRIK, MCPH17, STK21, CIT
    Summary: citron rho-interacting serine/threonine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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