Peall, 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
7
11
No
-Motor
Chorea
Dystonia
Developmental delay
Muscular hypotonia
Dystonia (any or unspecified)
Show more (+3)
n.a.
Yes
n.a.
GBR
1
18
Yes
Myoclonus
Muscular hypotonia
Cerebellar signs
Chorea
Developmental delay
-Motor
Ataxia
Show more (+4)
n.a.
Yes
n.a.
GBR
2
16
No
Dysarthria
-Motor
Dystonia
Muscular hypotonia
Speech disturbance
Chorea
Dystonia (any or unspecified)
Myoclonus
Developmental delay
Show more (+6)
n.a.
p.Tyr387*: het
Yes
n.a.
GBR
3
12
No
Muscular hypotonia
Dystonia (any or unspecified)
Dystonia
Speech disturbance
-Motor
Chorea
Dysarthria
Developmental delay
Show more (+5)
n.a.
Yes
n.a.
GBR
1
4
No
Cerebellar signs
Dystonia (any or unspecified)
Muscular hypotonia
Ataxia
-Motor
Dystonia
Chorea
Myoclonus
Show more (+5)
n.a.
p.Tyr144*: het
Yes
n.a.
GBR
3
3
Yes
Dystonia
Dysarthria
Dystonia (any or unspecified)
Myoclonus
-Motor
Spasticity
Hypothyroidism
Chorea
Speech disturbance
Developmental delay
Show more (+7)
n.a.
p.Trp143*: het
Yes
n.a.
GBR
n.a.
5
No
Chorea
Tremor (any or unspecified)
-Motor
n.a.
Yes
n.a.
GBR
1
2
Yes
Dysarthria
Muscular hypotonia
Myoclonus
Hypothyroidism
-Motor
Speech disturbance
Chorea
Show more (+4)
n.a.
p.Tyr204*: het
Yes
n.a.
GBR
6
6
No
Chorea
-Motor
Hypothyroidism
Developmental delay
Muscular hypotonia
Show more (+2)
n.a.
Yes
n.a.
GBR
13
14
No
Hypothyroidism
Ataxia
Dystonia
Cerebellar signs
Dystonia (any or unspecified)
Muscular hypotonia
-Motor
Chorea
Show more (+5)
n.a.