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GTR Home > Conditions/Phenotypes > Microcephaly 26, primary, autosomal dominant

Microcephaly 26, primary, autosomal dominant

Summary

Autosomal dominant primary microcephaly-26 (MCPH26) is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Some patients may have only mild learning difficulties or speech delay, whereas other are more severely affected with the inability to walk or speak. Additional features may include short stature, spasticity, feeding difficulties requiring tube feeding, and nonspecific dysmorphic facial features. Brain imaging in some patients shows a simplified gyral pattern or dysgenesis of the corpus callosum, suggesting abnormal neuronal migration (summary by Cristofoli et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADLD, LMN, LMN2, LMNB, MCPH26, LMNB1
    Summary: lamin B1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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