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