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GTR Home > Conditions/Phenotypes > Microcephaly 30, primary, autosomal recessive

Microcephaly 30, primary, autosomal recessive

Summary

Autosomal recessive primary microcephaly-30 (MCPH30) is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development. Affected individuals have been reported to have variable additional congenital anomalies, including atrial septal defect, dysmorphic facial features, tracheal stenosis, and anomalies of the skin and teeth (Carvalhal et al., 2022). For a general phenotypic description and 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: BUB1A, BUB1L, MCPH30, hBUB1, BUB1
    Summary: BUB1 mitotic checkpoint serine/threonine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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