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 Biomarker disease HPO
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