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