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