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