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
|
Chorea
Developmental delay Cerebellar signs Hypothyroidism Motor delay Athetosis Dyskinesia Delayed fine motor development Delayed gross motor development Muscular hypotonia Delayed speech and language development Motor fluctuations Global developmental delay Severe global developmental delay -Motor Show more (+12) |
Developmental delay
Hypothyroidism |
|
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 Delayed speech and language development Cerebellar signs Speech disturbance Chorea Hypothyroidism Muscular hypotonia Athetosis Delayed fine motor development Global developmental delay Delayed gross motor development Motor delay Developmental delay Severe global developmental delay Show more (+12) |
Hypothyroidism
Developmental delay |