Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
53
|
n.a.
|
Delayed motor development
Developmental regression Dystonia, limb Dystonia (any or unspecified) Spasticity Gait difficulties Residual motor signs Dystonia, axial Dystonia, generalized Lower limb dystonia Developmental delay Show more (+8) |
Dystonia (any or unspecified)
|
|
No
|
♂
|
n.a.
|
n.a.
|
3
|
42
|
n.a.
|
Intellectual developmental disorder
Tremor (any or unspecified) Dystonia, axial Cognitive impairment Delayed motor development Spasticity Developmental delay Hypotonia Lower limb dystonia Dystonia, generalized Developmental regression Anxiety Dystonia (any or unspecified) Bradykinesia Hyperreflexia Dystonia, limb Gait difficulties Show more (+14) |
Hypotonia
Dystonia (any or unspecified) |