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