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