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