McMichael, 2013: Overview of all reported CHOR-NKX2-1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
AUS
|
2
|
n.a.
|
Yes
|
Chorea
Global developmental delay Falls Delayed gross motor development Developmental delay -Motor Motor delay Ataxia Athetosis Cerebellar signs Delayed fine motor development Show more (+8) |
Chorea
Motor delay |
|
No
|
♂
|
C
|
AUS
|
1
|
n.a.
|
Yes
|
Cerebellar signs
Athetosis -Motor Falls Developmental delay Trigger: Stress Ataxia Delayed gross motor development Dysarthria Delayed speech and language development Delayed fine motor development Global developmental delay Chorea Motor delay Speech disturbance Show more (+12) |
Chorea
Motor delay |
|
Yes
|
♂
|
C
|
AUS
|
n.a.
|
49
|
Yes
|
Tremor, intention
Falls -Motor Delayed gross motor development Delayed fine motor development Dysarthria Speech disturbance Cerebellar signs Global developmental delay Motor delay Delayed speech and language development Developmental delay Tremor, action Tremor (any or unspecified) Ataxia Show more (+12) |
Motor delay
Ataxia |