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