Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
H
|
MEX
|
n.a.
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Seizures Microcephaly Hyperreflexia Cognitive impairment Autonomic sign/sympt. Global developmental delay Show more (+4) |
n.a.
|
|
No
|
n.a.
|
H
|
MEX
|
n.a.
|
n.a.
|
n.a.
|
Cognitive impairment
Seizures Dystonia (any or unspecified) Autonomic sign/sympt. Hyperreflexia Microcephaly Global developmental delay Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
H
|
MEX
|
n.a.
|
7
|
No
|
Autonomic sign/sympt.
Cognitive impairment Seizures Hyperreflexia Dystonia (any or unspecified) Microcephaly Global developmental delay Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
H
|
MEX
|
0
|
6
|
No
|
Hyperreflexia
Cognitive impairment Global developmental delay Seizures Autonomic sign/sympt. Microcephaly Dystonia (any or unspecified) Show more (+4) |
n.a.
|
|
No
|
n.a.
|
H
|
MEX
|
0
|
6
|
No
|
Dystonia (any or unspecified)
Seizures Global developmental delay Autonomic sign/sympt. Hyperreflexia Cognitive impairment Microcephaly Show more (+4) |
n.a.
|