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