Nagasaki, 2008: 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.
0
14
No
Mild global developmental delay
Global developmental delay
-Motor
Muscular hypotonia
Chorea
Gait impairment
Motor delay
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Chorea