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