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