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