Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
IND
|
3
|
4
|
No
|
Strabismus
Mri brain other abnormalities Cerebellar atrophy Muscular hypotonia Pyramidal sign Nystagmus Optic atrophy Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
2
|
2
|
No
|
Muscular hypotonia
Strabismus Pyramidal sign Optic atrophy Nystagmus Hypotonia Mri brain other abnormalities Cerebellar atrophy Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
1
|
3
|
No
|
Strabismus
Muscular hypotonia Nystagmus Hypotonia Cerebellar atrophy Pyramidal sign Optic atrophy Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
1
|
3
|
No
|
Muscular hypotonia
Hypotonia Strabismus Pyramidal sign Cerebellar atrophy Nystagmus Optic atrophy Mri brain other abnormalities Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
8
|
10
|
No
|
Cerebellar atrophy
Hypointensity on basal ganglia and or nigra Dystonia (any or unspecified) Pyramidal sign Bradykinesia Show more (+2) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
9
|
16
|
No
|
Cerebellar atrophy
Hypointensity on basal ganglia and or nigra Cerebellar signs Pyramidal sign Dystonia (any or unspecified) Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
2
|
5
|
No
|
Nystagmus
Cerebellar atrophy Pyramidal sign Optic atrophy Muscular hypotonia Mri brain other abnormalities Hypotonia Strabismus Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
2
|
3
|
No
|
Hypotonia
Strabismus Pyramidal sign Mri brain other abnormalities Nystagmus Cerebellar atrophy Optic atrophy Muscular hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
2
|
3
|
No
|
Muscular hypotonia
Mri brain other abnormalities Strabismus Pyramidal sign Nystagmus Optic atrophy Cerebellar atrophy Hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
IND
|
2
|
4
|
No
|
Hypointensity on basal ganglia and or nigra
Cerebellar atrophy Mri brain other abnormalities Nystagmus Pyramidal sign Hypotonia Strabismus Muscular hypotonia Optic atrophy Show more (+6) |
n.a.
|