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