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