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