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