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