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