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