| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
0
|
17
|
n.a.
|
Delayed speech and language development
Dystonia, generalized Dystonia (any or unspecified) Muscular hypotonia Motor delay Dystonia, axial Global developmental delay Dyskinesia Developmental regression Diurnal fluctuations Rigidity Show more (+8) |
Muscular hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Muscular hypotonia
Dystonia (any or unspecified) Diurnal fluctuations Global developmental delay Rigidity Developmental regression Delayed speech and language development Dysarthria Dyskinesia Motor delay Show more (+7) |
Muscular hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
22
|
n.a.
|
Dystonia, foot
|