Nettore, 2013: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
BRA
17
n.a.
Yes
-Motor
Chorea
Chorea
No
n.a.
BRA
n.a.
n.a.
Yes
-Motor
Hypothyroidism
Chorea
Cognitive impairment
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Hypothyroidism
Chorea
No
n.a.
BRA
n.a.
n.a.
Yes
Hypothyroidism
-Motor
Chorea
Chorea
No
n.a.
BRA
22
n.a.
Yes
-Motor
Dystonia (any or unspecified)
Hypothyroidism
Dystonia, cervical
Chorea
Dystonia
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Hypothyroidism
Dystonia, cervical
Yes
n.a.
BRA
n.a.
n.a.
Yes
Gait impairment
Motor delay
Chorea
Delayed fine motor development
Delayed gross motor development
Ataxia
Cerebellar signs
Developmental delay
Global developmental delay
-Motor
Hypothyroidism
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Motor delay
Chorea