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