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