Willemsen, 2005: 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
|
♂
|
C
|
NLD
|
n.a.
|
23
|
No
|
Athetosis
Motor delay Moderate global developmental delay -Motor Delayed gross motor development Delayed speech and language development Hypothyroidism Developmental delay Muscular hypotonia Chorea Cognitive impairment Delayed fine motor development Global developmental delay Show more (+10) |
Hypothyroidism
Developmental delay |