Asmus, 2007: 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
n.a.
n.a.
2
14
Yes
Chorea
Athetosis
-Motor
Developmental delay
Motor delay
Ataxia
Gait impairment
Delayed fine motor development
Delayed gross motor development
Mild global developmental delay
Global developmental delay
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n.a.
c.464-2A>C: het
Yes
n.a.
n.a.
n.a.
n.a.
Yes
Trigger: Anxiety
Trigger: Sleep deprivation
Ataxia
Chorea
Delayed fine motor development
Gait impairment
Motor delay
Global developmental delay
Delayed gross motor development
Dystonia
Developmental delay
Mild global developmental delay
Athetosis
Trigger: Stress
Dystonia (any or unspecified)
Paroxysmal dyskinesia
Trigger: Sudden movement
-Motor
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Chorea
Developmental delay
c.464-2A>C: het