Doyle, 2004: 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.
n.a.
n.a.
Yes
Falls
Motor delay
-Motor
Gait impairment
Show more (+1)
n.a.
c.464-2A>C: het
Yes
n.a.
n.a.
n.a.
10
Yes
Chorea
Motor delay
Cerebellar signs
Gait impairment
Ataxia
Speech disturbance
-Motor
Dysarthria
Show more (+5)
Chorea
Ataxia
c.464-2A>C: het
No
n.a.
n.a.
n.a.
n.a.
Yes
Ataxia
Motor delay
Falls
-Motor
Gait impairment
Show more (+2)
Ataxia
c.464-2A>C: het
No
n.a.
n.a.
n.a.
n.a.
Yes
-Motor
Chorea
Speech disturbance
Dysarthria
Cerebellar signs
Gait impairment
Ataxia
Motor delay
Show more (+5)
Chorea
Ataxia
c.464-2A>C: het