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