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
Dysarthria
Ataxia
Delayed gross motor development
Cerebellar signs
Hypothyroidism
Gait impairment
-Motor
Dystonia
Dystonia (any or unspecified)
Chorea
Motor delay
Show more (+8)
Ataxia
p.Lys211*: het
No
n.a.
GBR
n.a.
26
Yes
Hypothyroidism
Gait impairment
Motor delay
Chorea
Ataxia
Delayed gross motor development
-Motor
Cerebellar signs
Show more (+5)
Chorea
Ataxia
p.Lys211*: het