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