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
|
Athetosis
Global developmental delay Delayed fine motor development Cerebellar signs Delayed gross motor development Motor delay Ataxia Developmental delay Falls -Motor Chorea Show more (+8) |
Motor delay
Chorea |
|
No
|
♂
|
C
|
AUS
|
1
|
n.a.
|
Yes
|
Athetosis
Trigger: Stress Dysarthria Chorea Delayed gross motor development Motor delay Speech disturbance -Motor Cerebellar signs Ataxia Global developmental delay Falls Delayed fine motor development Delayed speech and language development Developmental delay Show more (+12) |
Chorea
Motor delay |
|
Yes
|
♂
|
C
|
AUS
|
n.a.
|
49
|
Yes
|
Tremor (any or unspecified)
Tremor, action Delayed speech and language development Delayed fine motor development Global developmental delay Motor delay Developmental delay -Motor Dysarthria Delayed gross motor development Cerebellar signs Speech disturbance Falls Ataxia Tremor, intention Show more (+12) |
Motor delay
Ataxia |