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