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