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