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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Developmental AnomalyFacial DysmorphismDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsCerebellar DysgenesisNeuroscienceAbnormal DevelopmentNeuropathologyMedicineNeurogenetics