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