Disease: Meningomyelocele ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.010 GeneticVariation disease BEFREE We report a monozygotic twin with severe NTDs (occipital encephalocele and myelomeningocele) and a shared de novo, likely truncating, variant in SMARCC1. 29360170 2018