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GTR Home > Conditions/Phenotypes > Microcephaly 28, primary, autosomal recessive

Microcephaly 28, primary, autosomal recessive

Summary

Autosomal recessive primary microcephaly-28 (MCPH28) is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood (summary by Farooq et al., 2020). For a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BK126B4.3, CGI-96, MCPH28, Rrp7, RRP7A
    Summary: ribosomal RNA processing 7 homolog A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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