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