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