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