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