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