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