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