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