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