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