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