Sempere, 2013: 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.
0
41
Yes
Dystonia
Delayed speech and language development
-Motor
Developmental delay
Chorea
Profound global developmental delay
Delayed gross motor development
Delayed fine motor development
Severe global developmental delay
Gait impairment
Dystonia, axial
Cognitive impairment
Motor delay
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Chorea
p.Gln107*: het
No
n.a.
n.a.
0
39
Yes
Developmental delay
Chorea
Cognitive impairment
Dystonia
Severe global developmental delay
Delayed gross motor development
Delayed speech and language development
Gait impairment
Delayed fine motor development
-Motor
Profound global developmental delay
Dystonia, axial
Motor delay
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Chorea
p.Gln107*: het
No
n.a.
n.a.
n.a.
64
Yes
-Motor
Chorea
Chorea
p.Gln107*: het
Yes
n.a.
n.a.
0
42
Yes
Delayed speech and language development
Developmental delay
Profound global developmental delay
Cognitive impairment
Motor delay
Chorea
Delayed gross motor development
Dystonia
-Motor
Gait impairment
Delayed fine motor development
Severe global developmental delay
Dystonia, axial
Show more (+10)
Chorea
p.Gln107*: het
No
n.a.
n.a.
n.a.
36
Yes
Chorea
-Motor
Chorea
p.Gln107*: het