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