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Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) is an autosomal recessive disorder characterized by intellectual disability associated with ataxia (summary by Engel et al., 2023). [from OMIM]
Neonatal-onset encephalopathy with rigidity and seizures
Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014). [from OMIM]
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