Chen, 2013: Overview of all reported PFBC-SLC20A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
A
CHN
n.a.
67
Yes
Brain calcification
Speech disturbance
-Motor
Speech disturbance
p.Leu62Pro: het
Yes
A
CHN
13
30
Yes
Brain calcification
-Motor
Speech disturbance
Anxiety
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Speech disturbance
Anxiety
p.Leu62Pro: het
No
A
CHN
n.a.
44
Yes
Brain calcification
-Motor
Speech disturbance
Speech disturbance
p.Leu62Pro: het
Yes
A
CHN
n.a.
27
Yes
PKD
Brain calcification
-Motor
Dystonia
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Dystonia
No
A
CHN
n.a.
42
Yes
Brain calcification
-Motor
Speech disturbance
Speech disturbance
p.Leu62Pro: het
No
A
CHN
n.a.
50
Yes
-Motor
Brain calcification
Dystonia
Tremor (any or unspecified)
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Dystonia
Yes
A
CHN
21
59
No
Brain calcification
Dystonia
Chorea
-Motor
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n.a.