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