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