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