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