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