Gauquelin, 2017: 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.
CAN
2
10
No
Hypothyroidism
Dystonia (any or unspecified)
-Motor
Dystonia
Muscular hypotonia
Myoclonus
Motor delay
Chorea
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Muscular hypotonia
Chorea