Provenzano, 2016: 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.
ITA
n.a.
9
No
Dystonia
Delayed gross motor development
Hypothyroidism
Falls
-Motor
Dystonia (any or unspecified)
Athetosis
Myoclonus
Developmental delay
Chorea
Motor delay
Gait impairment
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Chorea
Gait impairment
Yes
n.a.
ESP
2
32
n.a.
Dystonia, foot
Dystonic posturing
Ballism
Ataxia
Dystonia (any or unspecified)
Dystonia, hand
Falls
-Motor
Athetosis
Developmental delay
Motor delay
Chorea
Cerebellar signs
Dystonia, task-specific
Myoclonus
Gait impairment
Delayed gross motor development
Dystonia
Hypothyroidism
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Chorea
Gait impairment