Rosati, 2015: 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
3
12
n.a.
-Motor
Chorea
Developmental delay
Gait impairment
Falls
Delayed gross motor development
Motor delay
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Chorea
Yes
n.a.
ITA
1
2
No
-Motor
Dystonia, arm
Dystonia (any or unspecified)
Falls
Cerebellar signs
Facial twitches
Motor delay
Gait impairment
Developmental delay
Dystonia
Dystonia, generalized
Chorea
Delayed gross motor development
Muscular hypotonia
Ataxia
Dystonia, foot
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Dystonia
Chorea
p.Gln212*: het