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