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