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
|
Diurnal fluctuations
Hypotonia Developmental delay Intellectual developmental disorder Cognitive impairment Dyskinesia Show more (+3) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
Hypotonia
Developmental delay Diurnal fluctuations Cognitive impairment Intellectual developmental disorder Dyskinesia Show more (+3) |
n.a.
|