Uematsu, 2012: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
A
JPN
n.a.
6
Yes
Chorea
Delayed gross motor development
Hypothyroidism
Gait impairment
Cerebellar signs
-Motor
Athetosis
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Hypothyroidism
Yes
A
JPN
n.a.
7
No
Chorea
Delayed gross motor development
Gait impairment
Hypothyroidism
-Motor
Cerebellar signs
Athetosis
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Chorea
Hypothyroidism
Yes
A
JPN
n.a.
5
Yes
Delayed gross motor development
Hypothyroidism
Gait impairment
Athetosis
Chorea
-Motor
Cerebellar signs
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Hypothyroidism
Chorea