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