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