Abstract:Hypotonia, Ataxia, and Delayed Development syndrome is a neurodevelopmental disorder caused by heterozygous Early B-Cell Factor 3 (EBF3) loss-of-function variants. Identified in 2016, the full spectrum of clinical findings and the relationship between the EBF3 genotype and clinical outcomes has not been determined beyond its namesake features. We combined a phenotypic assessment of 33 individuals molecularly diagnosed with EBF3 pathogenic variants with a meta-analysis of 34 previously reported individuals. The… Show more
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