| 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
Cognitive impairment Dystonia (any or unspecified) Seizures Dyskinesia Intellectual developmental disorder Decreased body weight Dystonia, limb Phenylketonuria Microcephaly Global developmental delay Lower limb dystonia Developmental delay/intellectual disability -Motor Short stature Motor delay Muscular hypotonia Gait difficulties Delayed speech and language development Show more (+16) |
Global developmental delay
Muscular hypotonia |