David, 2016: Overview of all reported PFBC-SLC20A2 patients

Index patientSex Ethnicity Country of originAAO Family history Symptoms Initial symptoms Reported mutations
Yesn.g.FRA57YesDystonian.g.c.(-265+1_-264+1)_(289+1_290-1)del: n.g.
Yesn.g.FRA34YesDepression,
Migraine (any subclass),
Speech disturbance
n.g.c.(-265+1_-264+1)_(289+1_290-1)del: n.g.
Non.g.FRAn.g.YesBradykinesia,
Epileptic seizures (of any type)
n.g.c.(-265+1_-264+1)_(289+1_290-1)del: n.g.
Yesn.g.FRA20YesAction tremor,
Migraine (any subclass),
Resting tremor,
Rigidity,
Speech disturbance

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n.g.c.(430+1_431-1)_(516-1_517+1)del: n.g.
Non.g.FRA54YesRigidity,
Speech disturbance
n.g.c.(430+1_431-1)_(516-1_517+1)del: n.g.