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
-Motor
Chorea
Athetosis
Gait impairment
Cognitive impairment
Delayed speech and language development
Motor delay
Show more (+4)
n.a.
p.Gln249*: het
Yes
n.a.
PRT
1
30
Yes
Chorea
Cognitive impairment
Delayed speech and language development
Spasticity
Athetosis
Gait impairment
Motor delay
Speech disturbance
-Motor
Show more (+6)
Chorea
p.Gln249*: het