Barrett, 2017: Overview of all reported CHOR-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
8
|
24
|
Yes
|
Dyskinesia
Dystonia, limb Dystonia, hand Gait impairment Delayed speech and language development Dystonia, generalized Dystonia, cervical Myoclonus -Motor Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
27
|
Yes
|
Motor delay
Delayed speech and language development Myoclonus Dyskinesia Dystonia, generalized Delayed gross motor development -Motor Dystonia, limb Gait impairment Show more (+6) |
n.a.
|