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