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
Chorea
Dystonia
Motor delay
-Motor
Ataxia
Cerebellar signs
Dystonia (any or unspecified)
Gait impairment
Hypothyroidism
Delayed gross motor development
Dysarthria
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Ataxia
p.Lys211*: het
No
n.a.
GBR
n.a.
26
Yes
Gait impairment
Delayed gross motor development
Motor delay
-Motor
Chorea
Hypothyroidism
Cerebellar signs
Ataxia
Show more (+5)
Chorea
Ataxia
p.Lys211*: het