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