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