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