Tozawa, 2016: 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
|
♀
|
A
|
JPN
|
n.a.
|
5
|
No
|
Cognitive impairment
Ataxia Cerebellar signs Delayed gross motor development Hypothyroidism Motor delay Speech disturbance Gait impairment Chorea Muscular hypotonia -Motor Show more (+8) |
Ataxia
Muscular hypotonia |