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