| 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 Developmental delay Delayed motor development Show more (+2) |
Hypotonia
|
|
Yes
|
♂
|
n.a.
|
IND
|
0
|
10
|
n.a.
|
Sleep benefit
Oculogyric crisis Upper limb dystonia Dystonia, segmental/multifocal Sleep disorder Developmental delay Delayed motor development Dystonia, limb Dystonia (any or unspecified) Intellectual developmental disorder Spasticity Hypotonia Lower limb dystonia Dyskinesia Cognitive impairment Show more (+12) |
Hypotonia
|