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