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 Muscular hypotonia Dystonia (any or unspecified) Developmental delay Dystonia Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
1
|
18
|
Yes
|
-Motor
Myoclonus Cerebellar signs Muscular hypotonia Developmental delay Chorea Ataxia Show more (+4) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
2
|
16
|
No
|
Dystonia
Muscular hypotonia Dystonia (any or unspecified) Chorea Dysarthria Speech disturbance Myoclonus Developmental delay -Motor Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
3
|
12
|
No
|
Developmental delay
Chorea Muscular hypotonia Speech disturbance Dystonia (any or unspecified) Dystonia -Motor Dysarthria Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
1
|
4
|
No
|
-Motor
Cerebellar signs Dystonia Ataxia Chorea Muscular hypotonia Dystonia (any or unspecified) Myoclonus Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
3
|
3
|
Yes
|
Spasticity
Dysarthria Speech disturbance Dystonia (any or unspecified) Chorea Hypothyroidism Developmental delay Myoclonus Dystonia -Motor Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
n.a.
|
5
|
No
|
Tremor (any or unspecified)
-Motor Chorea |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
1
|
2
|
Yes
|
Muscular hypotonia
Myoclonus Speech disturbance -Motor Chorea Hypothyroidism Dysarthria Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
6
|
6
|
No
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
GBR
|
13
|
14
|
No
|
-Motor
Ataxia Chorea Dystonia Hypothyroidism Muscular hypotonia Dystonia (any or unspecified) Cerebellar signs Show more (+5) |
n.a.
|