| 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
Delayed speech and language development Seizures -Motor Cognitive impairment Tremor (any or unspecified) Behavioral issues Show more (+4) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IRL
|
0
|
28
|
n.a.
|
Delayed speech and language development
Tremor (any or unspecified) Global developmental delay -Motor Headache Phenylketonuria Intellectual developmental disorder Gait difficulties Muscular hypotonia Motor delay Double vision Cognitive impairment Show more (+9) |
n.a.
|