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