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