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