| 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.
|
Developmental regression
Global developmental delay Dyskinesia Motor delay Rigidity Dystonia (any or unspecified) Diurnal fluctuations Dystonia, axial Dystonia, generalized Muscular hypotonia Delayed speech and language development Show more (+8) |
Muscular hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Motor delay
Global developmental delay Delayed speech and language development Diurnal fluctuations Muscular hypotonia Rigidity Dystonia (any or unspecified) Developmental regression Dysarthria Dyskinesia Show more (+7) |
Muscular hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
22
|
n.a.
|
Dystonia, foot
|