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