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