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.
Chorea
Developmental delay
Motor delay
-Motor
Falls
Gait impairment
Delayed gross motor development
Show more (+4)
Chorea
Yes
n.a.
ITA
1
2
No
Chorea
Dystonia, foot
Muscular hypotonia
Developmental delay
Facial twitches
-Motor
Motor delay
Cerebellar signs
Delayed gross motor development
Dystonia, generalized
Dystonia
Dystonia (any or unspecified)
Dystonia, arm
Falls
Ataxia
Gait impairment
Show more (+13)
Chorea
Dystonia
p.Gln212*: het