EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Disease: Aplasia/Hypoplasia of the cerebellar vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		0.100 CausalMutation phenotype CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017