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