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