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