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