Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
IRL
|
0
|
27
|
n.a.
|
Behavioral issues
Tremor (any or unspecified) Intellectual developmental disorder Seizures Delayed speech and language development -Motor Cognitive impairment Show more (+4) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IRL
|
0
|
28
|
n.a.
|
Cognitive impairment
Tremor (any or unspecified) -Motor Double vision Gait difficulties Intellectual developmental disorder Delayed speech and language development Global developmental delay Muscular hypotonia Phenylketonuria Motor delay Headache Show more (+9) |
n.a.
|