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