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