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
Hypothyroidism
Chorea
-Motor
Cognitive impairment
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Hypothyroidism
Chorea
No
n.a.
BRA
n.a.
n.a.
Yes
-Motor
Chorea
Hypothyroidism
Chorea
No
n.a.
BRA
22
n.a.
Yes
-Motor
Dystonia
Dystonia (any or unspecified)
Hypothyroidism
Chorea
Dystonia, cervical
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Hypothyroidism
Dystonia, cervical
Yes
n.a.
BRA
n.a.
n.a.
Yes
Delayed fine motor development
-Motor
Cerebellar signs
Developmental delay
Gait impairment
Hypothyroidism
Motor delay
Ataxia
Chorea
Delayed gross motor development
Global developmental delay
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Motor delay
Chorea