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