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