Williamson, 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
No
n.a.
GBR
1
n.a.
Yes
Cerebellar signs
Ataxia
Chorea
Delayed gross motor development
Developmental delay
-Motor
Motor delay
Show more (+4)
Chorea
No
n.a.
GBR
1
n.a.
Yes
Hypothyroidism
Chorea
-Motor
Chorea
Yes
n.a.
GBR
n.a.
n.a.
Yes
Ataxia
Hypothyroidism
Tremor, intention
Chorea
Tremor (any or unspecified)
Developmental delay
Tremor, action
Delayed gross motor development
Motor delay
-Motor
Cerebellar signs
Show more (+8)
Ataxia
Chorea