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
Chorea
Hypothyroidism
Cognitive impairment
Show more (+1)
Chorea
Hypothyroidism
No
♀
n.a.
BRA
n.a.
n.a.
Yes
Hypothyroidism
-Motor
Chorea
Chorea
No
♂
n.a.
BRA
22
n.a.
Yes
Dystonia
-Motor
Dystonia (any or unspecified)
Chorea
Hypothyroidism
Dystonia, cervical
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Hypothyroidism
Dystonia, cervical
Yes
♂
n.a.
BRA
n.a.
n.a.
Yes
Global developmental delay
Developmental delay
Motor delay
Ataxia
Delayed fine motor development
Hypothyroidism
Delayed gross motor development
-Motor
Gait impairment
Chorea
Cerebellar signs
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Motor delay
Chorea