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