Provenzano, 2008: 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
C
GBR
1
1
Yes
Dystonia, arm
Global developmental delay
Dysarthria
Trigger: Stress
-Motor
Ataxia
Gait impairment
Delayed gross motor development
Developmental delay
Delayed speech and language development
Cerebellar signs
Athetosis
Dystonia
Chorea
Dystonia (any or unspecified)
Mild global developmental delay
Motor delay
Speech disturbance
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Developmental delay
Chorea
p.Arg208*: het
No
C
GBR
n.a.
n.a.
Yes
Chorea
-Motor
Athetosis
n.a.
p.Arg208*: het