Paucar, 2017: Overview of all reported PFBC-SLC20A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
SWE
42
54
Yes
Psychotic sign/sympt.
Cerebellar signs
Brain calcification
Cognitive decline
-Motor
Dystonia
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n.a.
p.Arg467*: het