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