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