Fons, 2012: 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.
|
ESP
|
2
|
6
|
No
|
Delayed fine motor development
Athetosis -Motor Delayed gross motor development Developmental delay Cerebellar signs Muscular hypotonia Hypothyroidism Motor delay Ataxia Chorea Global developmental delay Gait impairment Severe global developmental delay Falls Show more (+12) |
Motor delay
Chorea |