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