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