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
Cognitive impairment Moderate global developmental delay Delayed speech and language development Developmental delay Delayed gross motor development Motor delay Chorea Delayed fine motor development Hypothyroidism Global developmental delay Muscular hypotonia -Motor Show more (+10) |
Developmental delay
Hypothyroidism |