Disease: Focal T2 hyperintense brainstem lesion ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Focal T2 hyperintense brainstem lesion
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019