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.
|
Seizures
Hyperreflexia Global developmental delay Microcephaly Cognitive impairment Autonomic sign/sympt. Dystonia (any or unspecified) Show more (+4) |
n.a.
|
|
No
|
n.a.
|
H
|
MEX
|
n.a.
|
n.a.
|
n.a.
|
Global developmental delay
Seizures Autonomic sign/sympt. Microcephaly Hyperreflexia Dystonia (any or unspecified) Cognitive impairment Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
H
|
MEX
|
n.a.
|
7
|
No
|
Autonomic sign/sympt.
Cognitive impairment Hyperreflexia Dystonia (any or unspecified) Microcephaly Global developmental delay Seizures Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
H
|
MEX
|
0
|
6
|
No
|
Seizures
Global developmental delay Microcephaly Autonomic sign/sympt. Cognitive impairment Hyperreflexia Dystonia (any or unspecified) Show more (+4) |
n.a.
|
|
No
|
n.a.
|
H
|
MEX
|
0
|
6
|
No
|
Hyperreflexia
Global developmental delay Microcephaly Autonomic sign/sympt. Dystonia (any or unspecified) Cognitive impairment Seizures Show more (+4) |
n.a.
|