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