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