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