| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
LBN
|
1
|
5
|
No
|
Dystonia, limb
Intellectual developmental disorder Seizures Phenylketonuria Dyskinesia -Motor Global developmental delay Muscular hypotonia Delayed speech and language development Upper limb dystonia Gait difficulties Microcephaly Lower limb dystonia Developmental delay/intellectual disability Motor delay Dystonia (any or unspecified) Short stature Cognitive impairment Decreased body weight Show more (+16) |
Global developmental delay
Muscular hypotonia |