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