Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
C
|
n.a.
|
4
|
10
|
No
|
Ataxia
Abnormality of skeletal morphology Tremor (any or unspecified) Dystonia (any or unspecified) Abnormal central motor function Dysarthria Cognitive impairment Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
2
|
15
|
No
|
Short stature
Dysmorphic features Ataxia Mri brain abnormality Dysarthria Dystonia, lower face Dystonia (any or unspecified) Spasticity Developmental regression Choreoathetosis Abnormal central motor function Facial grimacing Dystonia, limb Abnormality of skeletal morphology Upper motor neuron dysfunction Show more (+12) |
Developmental regression
|
|
Yes
|
n.a.
|
C
|
n.a.
|
n.a.
|
22
|
No
|
Dysarthria
Abnormal central motor function Muscular hypotonia Mri brain abnormality Dystonia (any or unspecified) Global developmental delay Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
C
|
n.a.
|
n.a.
|
15
|
No
|
Dystonia (any or unspecified)
Parkinsonism Abnormal central motor function Abnormality of skeletal morphology Mri brain abnormality Dysmorphic features Ophthalmologic abnormalities Global developmental delay Dysarthria Show more (+6) |
n.a.
|