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