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