Veneziano, 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
Yes
n.a.
GBR
n.a.
49
Yes
Motor delay
Chorea
Dystonia
Hypothyroidism
Ataxia
Cerebellar signs
Dystonia (any or unspecified)
Delayed gross motor development
-Motor
Dysarthria
Gait impairment
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Ataxia
p.Lys211*: het
No
n.a.
GBR
n.a.
26
Yes
Ataxia
Chorea
Hypothyroidism
Gait impairment
Cerebellar signs
-Motor
Delayed gross motor development
Motor delay
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Ataxia
Chorea
p.Lys211*: het