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