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