Asmus, 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
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
Yes
|
Delayed speech and language development
Dyskinesia Global developmental delay Severe global developmental delay Delayed fine motor development Muscular hypotonia Delayed gross motor development Athetosis Motor delay Motor fluctuations Hypothyroidism Cerebellar signs -Motor Developmental delay Chorea Show more (+12) |
Hypothyroidism
Developmental delay |
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
2
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♂
|
n.a.
|
n.a.
|
2
|
n.a.
|
Yes
|
Dysarthria
-Motor Developmental delay Delayed gross motor development Delayed speech and language development Delayed fine motor development Athetosis Hypothyroidism Cerebellar signs Motor delay Chorea Global developmental delay Muscular hypotonia Severe global developmental delay Speech disturbance Show more (+12) |
Developmental delay
Hypothyroidism |