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