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