Gauquelin, 2017: 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.
|
CAN
|
2
|
10
|
No
|
-Motor
Hypothyroidism Motor delay Chorea Dystonia (any or unspecified) Dystonia Muscular hypotonia Myoclonus Show more (+5) |
Chorea
Muscular hypotonia |