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

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
ITA
n.a.
44
Yes
Brain calcification
-Motor
Hyperreflexia
n.a.
Yes
C
ITA
n.a.
61
Yes
Ataxia
Brain calcification
-Motor
Cognitive decline
Speech disturbance
Hyperreflexia
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n.a.