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