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