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Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis

Summary

Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (NEDMSC) is an autosomal recessive disorder characterized by severely impaired global development apparent from infancy, progressive microcephaly, and neonatal cholestasis manifest as jaundice and elevated liver enzymes. The liver disease resolves, but affected individuals show feeding difficulties, failure to thrive, hypotonia, seizures, hyperkinetic movements, irritability, and poor eye contact or vision, and achieve almost no motor or cognitive developmental milestones. Brain imaging demonstrates agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur (summary by Schneeberger et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CCDC132, NEDMSC, VPS54L, VPS50
    Summary: VPS50 subunit of EARP/GARPII complex

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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