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