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