CRPPA, CDP-L-ribitol pyrophosphorylase A, 729920

N. diseases: 134; N. variants: 26
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 		0.110 GeneticVariation disease BEFREE All these cases displayed a severe phenotype of cobblestone lissencephaly A. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies. 23217329 2012
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		0.110 Biomarker disease HPO