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GTR Home > Conditions/Phenotypes > Microcephaly 27, primary, autosomal dominant

Microcephaly 27, primary, autosomal dominant

Summary

Autosomal dominant primary microcephaly-27 (MCPH27) is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Most patients have variable and nonspecific additional features, including facial dysmorphism, hypotonia, limb hypertonia, poor feeding, and distal skeletal anomalies. Brain imaging may show enlarged ventricles or gyral abnormalities, but most have normal imaging (Parry et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPM9, LAMB2, LMN2, MCPH27, LMNB2
    Summary: lamin B2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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