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