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