Barreiro, 2011: 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
|
n.a.
|
No
|
Dyskinesia
Dystonia (any or unspecified) Severe global developmental delay Global developmental delay -Motor Gait impairment Ataxia Delayed fine motor development Delayed speech and language development Dystonia Falls Hypothyroidism Developmental delay Cerebellar signs Motor delay Delayed gross motor development Muscular hypotonia Show more (+14) |
Hypothyroidism
Motor delay |