Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

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Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare genetic neurologic disease characterized by congenital microcephaly severe early-onset epileptic encephalopathy (manifesting as intractable myoclonic and/or tonic-clonic seizures) permanent neonatal insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia skeletal abnormalities feeding difficulties and dysmorphic facial features (including narrow forehead anteverted nares small mouth with deep philtrum tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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