Disease: Cobblestone Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		0.010 GeneticVariation disease BEFREE Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. 27773428 2016