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