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GTR Home > Conditions/Phenotypes > Microcephaly 29, primary, autosomal recessive

Microcephaly 29, primary, autosomal recessive

Summary

Autosomal recessive primary microcephaly-29 (MCPH29) is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Affected individuals also have poor overall growth with short stature, mild dysmorphic facial features, and seizures (Khan 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: AIP1, ALIX, DRIP4, HP95, MCPH29, PDCD6IP
    Summary: programmed cell death 6 interacting protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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