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