Nakamura, 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
Yes
A
JPN
3
19
Yes
Muscular hypotonia
Hypothyroidism
-Motor
Gait impairment
Motor delay
Chorea
Delayed gross motor development
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Chorea
p.Tyr98*: het
No
A
JPN
6
47
Yes
Delayed gross motor development
Motor delay
-Motor
Chorea
Hypothyroidism
Show more (+2)
Chorea
p.Tyr98*: het