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GTR Home > Conditions/Phenotypes > Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum

Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum

Summary

The MCIDDS syndrome is characterized by microcephaly and growth retardation, congenital cataracts, impaired intellectual development with attention deficit-hyperactivity disorder, and dystonia, with striatal thinning seen on MRI (Al-Owain et al., 2013). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HBK4, HK1, HPCN2, HUKII, KCNA4L, KCNA8, KV1.4, MCIDDS, PCN2, KCNA4
    Summary: potassium voltage-gated channel subfamily A member 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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