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