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
Delayed gross motor development
Myoclonus
-Motor
Dystonia (any or unspecified)
Chorea
Hypothyroidism
Motor delay
Developmental delay
Athetosis
Falls
Gait impairment
Dystonia
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Chorea
Gait impairment
Yes
n.a.
ESP
2
32
n.a.
Dystonia (any or unspecified)
Ballism
Dystonia, hand
Falls
Dystonia, task-specific
Ataxia
Myoclonus
Athetosis
Dystonia
Hypothyroidism
Gait impairment
Delayed gross motor development
Dystonic posturing
Chorea
Cerebellar signs
-Motor
Developmental delay
Dystonia, foot
Motor delay
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Gait impairment
Chorea