Disease: Unspecified neurodevelopmental disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4237474
Disease: Unspecified neurodevelopmental disorder
Unspecified neurodevelopmental disorder 		0.300 Biomarker disease GENOMICS_ENGLAND A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. 30290155 2018