Costa, 2005: 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.
PRT
n.a.
59
Yes
Athetosis
Cognitive impairment
-Motor
Gait impairment
Motor delay
Chorea
Delayed speech and language development
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n.a.
p.Gln249*: het
Yes
n.a.
PRT
1
30
Yes
-Motor
Motor delay
Delayed speech and language development
Chorea
Gait impairment
Cognitive impairment
Athetosis
Speech disturbance
Spasticity
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Chorea
p.Gln249*: het