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