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