| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
12
|
No
|
Dystonia, oromandibular
Delayed speech and language development Abnormal central motor function Dystonia, lower face Dystonia, focal Muscular hypotonia Dystonia (any or unspecified) Show more (+4) |
Delayed speech and language development
Muscular hypotonia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
No
|
Delayed speech and language development
Abnormal central motor function Dystonia, limb Muscular hypotonia Dystonia (any or unspecified) Intellectual developmental disorder Global developmental delay Show more (+4) |
Muscular hypotonia
Global developmental delay |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
24
|
No
|
Oculogyric crisis
Muscular hypotonia Seizures Spasticity Hyperreflexia Abnormal central motor function Show more (+3) |
Muscular hypotonia
Seizures Hyperreflexia |