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