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