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