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Ataxia - paediatric v0.0 | SLC2A1 |
Bryony Thompson gene: SLC2A1 was added gene: SLC2A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC2A1 were set to dystonia 9; GLUT1 deficiency syndrome 2, 612126; GLUT1 DEFICIENCY SYNDROME 1; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1, 606777; Dystonia 9, 601042; EPILEPSY, IDIOPATHIC GENERALIZED |