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