Coon, 2016: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♀
n.a.
n.a.
n.a.
n.a.
Yes
Myoclonus
Ataxia
Gait impairment
Myoclonus at rest
-Motor
Motor delay
Chorea
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Myoclonus
Ataxia
No
♀
n.a.
n.a.
0
n.a.
Yes
Chorea
-Motor
Gait impairment
Hypothyroidism
Motor delay
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Chorea