Dale, 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
n.a.
n.a.
n.a.
2
n.a.
No
Developmental delay
Myoclonus at rest
Dystonia (any or unspecified)
Motor delay
Gait impairment
Myoclonus
Cognitive impairment
Chorea
-Motor
Dystonia
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n.a.