Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ITA
|
0
|
2
|
No
|
Rigidity
Hypotonia Lower limb dystonia Cognitive impairment Delayed motor development Diurnal fluctuations Dystonia, limb Dystonia/Parkinsonism Bradykinesia Upper limb dystonia Hyperreflexia Dystonia (any or unspecified) Autonomic sign/sympt. Oculogyric crisis Residual motor signs Developmental delay Intellectual developmental disorder Parkinsonism Show more (+15) |
Hypotonia
Bradykinesia |