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) Muscular hypotonia Dystonia Chorea Developmental delay Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
1
|
18
|
Yes
|
Muscular hypotonia
Cerebellar signs Myoclonus Ataxia -Motor Developmental delay Chorea Show more (+4) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
2
|
16
|
No
|
-Motor
Dystonia (any or unspecified) Chorea Myoclonus Dysarthria Dystonia Developmental delay Speech disturbance Muscular hypotonia Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
3
|
12
|
No
|
Dystonia
Dystonia (any or unspecified) Speech disturbance Developmental delay Muscular hypotonia -Motor Chorea Dysarthria Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
1
|
4
|
No
|
Cerebellar signs
Muscular hypotonia Dystonia Ataxia Chorea Dystonia (any or unspecified) -Motor Myoclonus Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
3
|
3
|
Yes
|
Dysarthria
Speech disturbance Chorea Myoclonus Dystonia (any or unspecified) Developmental delay Dystonia Spasticity -Motor Hypothyroidism Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GBR
|
n.a.
|
5
|
No
|
-Motor
Chorea Tremor (any or unspecified) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
1
|
2
|
Yes
|
Muscular hypotonia
Speech disturbance Dysarthria Myoclonus Hypothyroidism -Motor Chorea Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
6
|
6
|
No
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
GBR
|
13
|
14
|
No
|
Dystonia
Ataxia -Motor Cerebellar signs Chorea Dystonia (any or unspecified) Muscular hypotonia Hypothyroidism Show more (+5) |
n.a.
|