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GTR Home > Conditions/Phenotypes > Microcephaly 19, primary, autosomal recessive

Microcephaly 19, primary, autosomal recessive

Summary

Autosomal recessive primary microcephaly-19 (MCPH19) is a rare congenital brain defect resulting in a reduction of occipitofrontal head circumference by at least 3 standard deviations, severe developmental delay, failure to thrive, cortical blindness, and spasticity (DiStasio et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCPH19, OPDD, beta'-COP, COPB2
    Summary: COPI coat complex subunit beta 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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