Williamson, 2014: 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.
GBR
1
n.a.
Yes
-Motor
Chorea
Cerebellar signs
Delayed gross motor development
Motor delay
Ataxia
Developmental delay
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Chorea
No
n.a.
GBR
1
n.a.
Yes
-Motor
Chorea
Hypothyroidism
Chorea
Yes
n.a.
GBR
n.a.
n.a.
Yes
Developmental delay
Tremor (any or unspecified)
Tremor, action
Tremor, intention
Ataxia
Motor delay
Hypothyroidism
Cerebellar signs
Chorea
Delayed gross motor development
-Motor
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Ataxia
Chorea