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