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Li-Campeau syndrome

Summary

Li-Campeau syndrome (LICAS) is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, hypothyroidism, and variable abnormalities of the cardiac and genital systems. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy (summary by Li et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C14orf130, LICAS, UBR7
    Summary: ubiquitin protein ligase E3 component n-recognin 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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