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
|
Gait impairment
Global developmental delay Chorea Severe global developmental delay Cerebellar signs Delayed fine motor development Motor delay Delayed gross motor development Falls Ataxia Developmental delay Athetosis Hypothyroidism Muscular hypotonia -Motor Show more (+12) |
Chorea
Motor delay |