| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
12
|
No
|
Muscular hypotonia
Dystonia, focal Dystonia (any or unspecified) Abnormal central motor function Dystonia, oromandibular Dystonia, lower face 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 Delayed speech and language development Abnormal central motor function Intellectual developmental disorder Global developmental delay Dystonia (any or unspecified) Show more (+4) |
Muscular hypotonia
Global developmental delay |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
24
|
No
|
Oculogyric crisis
Abnormal central motor function Hyperreflexia Muscular hypotonia Spasticity Seizures Show more (+3) |
Hyperreflexia
Muscular hypotonia Seizures |