| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
Developmental delay
Hypotonia Diurnal fluctuations Cognitive impairment Dyskinesia Intellectual developmental disorder Show more (+3) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
Developmental delay
Cognitive impairment Intellectual developmental disorder Hypotonia Diurnal fluctuations Dyskinesia Show more (+3) |
n.a.
|