Ramos, 2018: 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
ITA
65
n.a.
Yes
Brain calcification
Dystonia
Chorea
-Motor
Cognitive decline
 Show more (+2)
n.a.
p.Gln247*: het
No
♀
C
FRA
26
n.a.
Yes
Brain calcification
-Motor
n.a.

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