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
Athetosis
Dystonia
Motor delay
Ataxia
Dysarthria
Developmental delay
Dystonia (any or unspecified)
Delayed gross motor development
Dystonia, arm
Global developmental delay
-Motor
Mild global developmental delay
Speech disturbance
Cerebellar signs
Delayed speech and language development
Gait impairment
Chorea
Trigger: Stress
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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