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