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