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