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
|
Dystonia (any or unspecified)
Motor delay Cerebellar signs Delayed gross motor development Delayed fine motor development Severe global developmental delay Global developmental delay Dyskinesia -Motor Delayed speech and language development Dystonia Developmental delay Ataxia Gait impairment Muscular hypotonia Falls Hypothyroidism Show more (+14) |
Motor delay
Hypothyroidism |