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
|
Gait impairment
Cerebellar signs Dystonia Ataxia Hypothyroidism Axial hypotonia Dystonia (any or unspecified) Delayed gross motor development -Motor Motor delay Muscular hypotonia Chorea Show more (+9) |
Muscular hypotonia
Chorea |