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
-Motor
Cognitive impairment
Chorea
Show more (+1)
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, cervical
Dystonia
Hypothyroidism
Chorea
Dystonia (any or unspecified)
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Dystonia, cervical
Hypothyroidism
Yes
n.a.
BRA
n.a.
n.a.
Yes
Delayed gross motor development
Motor delay
Hypothyroidism
-Motor
Gait impairment
Delayed fine motor development
Ataxia
Chorea
Cerebellar signs
Developmental delay
Global developmental delay
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Motor delay
Chorea