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