de Gusmao, 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
|
♀
|
n.a.
|
BRA
|
n.a.
|
3
|
No
|
Ataxia
Delayed gross motor development Muscular hypotonia -Motor Dystonia Axial hypotonia Cerebellar signs Hypothyroidism Chorea Motor delay Dystonia (any or unspecified) Gait impairment Show more (+9) |
Muscular hypotonia
Chorea |