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