Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
TUR
|
1
|
17
|
n.a.
|
Dysarthria
Resting tremor Bradykinesia Cognitive impairment Parkinsonism Developmental delay Dyskinesia Rigidity Delayed motor development Hypotonia Motor fluctuations Tremor (any or unspecified) Hyperreflexia Sleep benefit Show more (+11) |
Hypotonia
|
|
No
|
♀
|
n.a.
|
TUR
|
2
|
8
|
n.a.
|
Tremor (any or unspecified)
Parkinsonism Bradykinesia Hypotonia Developmental delay Rigidity Sleep benefit Sleep disorder Dysarthria Show more (+6) |
Hypotonia
|