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