Meijer, 2017: Overview of all reported CHOR-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
D
|
USA
|
4
|
16
|
No
|
Dystonia, axial
Dystonia, generalized Chorea Axial hypotonia Gait impairment Dysphonia Dysarthria Dystonia, limb -Motor Dystonia, arm Dystonia, foot Motor delay Dyskinesia Myoclonus Delayed gross motor development Show more (+12) |
n.a.
|