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Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
ORPHA:564178 · Disease · Disorder
HPO 表現型（共 12 項）
Frequent (79-30%)(12)
- Autistic behaviorHP:0000729
- Cerebral hypoplasiaHP:0006872
- Delayed gross motor developmentHP:0002194
- Episodic hypokalemiaHP:0012726
- Generalized-onset seizureHP:0002197
- Global developmental delayHP:0001263
- HypomagnesemiaHP:0002917
- NephrocalcinosisHP:0000121
- Poor speechHP:0002465
- Renal magnesium wastingHP:0005567
- Renal potassium wastingHP:0000128
- Status epilepticusHP:0002133