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