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