Knopp, 2019: Overview of all reported CHOR-PDE10A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
B
AFG
n.a.
1
Yes
Chorea
Dyskinesia
-Motor
Axial hypotonia
Motor delay
Muscular hypotonia
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n.a.
Yes
B
AFG
1
6
Yes
Gait impairment
-Motor
Motor delay
Muscular hypotonia
Dyskinesia
Chorea
Seizures
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n.a.