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 2026
Newly diagnosed with
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome?
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Advocacy Organizations
Access to Life NGO
Our mission is to improve the lives of people affected by genetic epilepsies by empowering patients and families, advancing access to diagnosis and treatment, supporting research, and advocating for equitable, patient-centered care in Ukraine in alignment with global rare disease standards.
Genetic Epilepsy Team Australia
Collaboration of research and care
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
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