McMichael, 2013: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
AUS
2
n.a.
Yes
Chorea
-Motor
Developmental delay
Cerebellar signs
Global developmental delay
Motor delay
Athetosis
Delayed gross motor development
Delayed fine motor development
Falls
Ataxia
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Chorea
Motor delay
No
C
AUS
1
n.a.
Yes
Trigger: Stress
Cerebellar signs
-Motor
Global developmental delay
Ataxia
Falls
Dysarthria
Developmental delay
Motor delay
Athetosis
Delayed fine motor development
Delayed gross motor development
Chorea
Delayed speech and language development
Speech disturbance
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Motor delay
Chorea
Yes
C
AUS
n.a.
49
Yes
-Motor
Tremor, intention
Motor delay
Dysarthria
Tremor, action
Delayed fine motor development
Speech disturbance
Global developmental delay
Cerebellar signs
Ataxia
Delayed gross motor development
Falls
Delayed speech and language development
Developmental delay
Tremor (any or unspecified)
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Motor delay
Ataxia