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
-Motor
Mild global developmental delay
Motor delay
Global developmental delay
Gait impairment
Delayed fine motor development
Ataxia
Chorea
Athetosis
Delayed gross motor development
Developmental delay
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n.a.
c.464-2A>C: het
Yes
n.a.
n.a.
n.a.
n.a.
Yes
Mild global developmental delay
Global developmental delay
Paroxysmal dyskinesia
Motor delay
Trigger: Sleep deprivation
Developmental delay
Dystonia
Trigger: Anxiety
Delayed fine motor development
Athetosis
Chorea
Trigger: Sudden movement
Delayed gross motor development
Trigger: Stress
-Motor
Dystonia (any or unspecified)
Ataxia
Gait impairment
Show more (+15)
Developmental delay
Chorea
c.464-2A>C: het