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