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