| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
IND
|
0
|
1
|
n.a.
|
Hypotonia
Oculogyric crisis Sleep disorder Delayed motor development Developmental delay Show more (+2) |
Hypotonia
|
|
Yes
|
♂
|
n.a.
|
IND
|
0
|
10
|
n.a.
|
Dystonia, limb
Lower limb dystonia Delayed motor development Hypotonia Intellectual developmental disorder Dyskinesia Spasticity Sleep benefit Sleep disorder Dystonia (any or unspecified) Upper limb dystonia Oculogyric crisis Dystonia, segmental/multifocal Developmental delay Cognitive impairment Show more (+12) |
Hypotonia
|