| 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
Abnormal central motor function Dystonia (any or unspecified) Delayed speech and language development Muscular hypotonia Dystonia, lower face Dystonia, focal Show more (+4) |
Delayed speech and language development
Muscular hypotonia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
No
|
Global developmental delay
Muscular hypotonia Dystonia (any or unspecified) Intellectual developmental disorder Delayed speech and language development Abnormal central motor function Dystonia, limb Show more (+4) |
Global developmental delay
Muscular hypotonia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
24
|
No
|
Hyperreflexia
Muscular hypotonia Oculogyric crisis Spasticity Seizures Abnormal central motor function Show more (+3) |
Hyperreflexia
Muscular hypotonia Seizures |