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