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