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