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