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