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