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
Gait impairment Dystonia, generalized Myoclonus Dystonia, cervical Dystonia, limb -Motor Delayed speech and language development Dystonia, hand Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
27
|
Yes
|
Myoclonus
Delayed speech and language development -Motor Dystonia, generalized Gait impairment Dystonia, limb Delayed gross motor development Motor delay Dyskinesia Show more (+6) |
n.a.
|