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