Megalencephalic leukoencephalopathy with subcortical cysts

Disease Term Disease ID Gene Symbol Classification References Source
Megalencephalic leukoencephalopathy with subcortical cysts 2478 HEPACAM Causal Pathogenic evidence from ClinVar - ClinVar
MLC1 Causal Pathogenic evidence from ClinVar - ClinVar
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS C1858854 HEPACAM Causal Pathogenic evidence from ClinVar - ClinVar
MLC1 Causal Pathogenic evidence from ClinVar 11254442, 11935341, 12189496, 12939431, 14572144, 14615938, 15367490, 16470554, 16652334, 18757878, 19168821, 21145992, 21160490, 21555057, 21624973, 22006981, 22328087, 22405205, 22416245, 23793458, 23851226, 25497041, 25767710, 26349194, 27081509, 27322623, 28588848, 29466841 ClinVar
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A C3151355 HEPACAM Causal Pathogenic evidence from ClinVar 21419380, 24357685, 25655951 ClinVar