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