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