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
Cerebellar signs
Chorea
Ataxia
-Motor
Developmental delay
Delayed gross motor development
Motor 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
Tremor, intention
Motor delay
Hypothyroidism
Ataxia
Developmental delay
Delayed gross motor development
Tremor (any or unspecified)
Tremor, action
-Motor
Cerebellar signs
Chorea
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Ataxia
Chorea