Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.010 GeneticVariation disease BEFREE Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. 30982090 2019