Disease: Hemiplegia-hemiconvulsion-epilepsy syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549118
Disease: Hemiplegia-hemiconvulsion-epilepsy syndrome
Hemiplegia-hemiconvulsion-epilepsy syndrome 		0.010 GeneticVariation disease BEFREE Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. 29858110 2018