| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
20
|
No
|
Intellectual developmental disorder
Autonomic sign/sympt. Seizures Hyperreflexia Muscular hypotonia Global developmental delay Abnormal central motor function Abnormality of the sense of smell Cognitive impairment Spasticity Microcephaly Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
15
|
No
|
Autonomic sign/sympt.
Global developmental delay Seizures Microcephaly Spasticity Intellectual developmental disorder Hyperreflexia Cognitive impairment Abnormal central motor function Abnormality of the sense of smell Muscular hypotonia Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
28
|
No
|
Seizures
Intellectual developmental disorder Spasticity Muscular hypotonia Cognitive impairment Hyperreflexia Abnormal central motor function Global developmental delay Show more (+5) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
18
|
No
|
Muscular hypotonia
Abnormal central motor function Intellectual developmental disorder Cognitive impairment Hyperreflexia Spasticity Global developmental delay Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
33
|
No
|
Global developmental delay
Hyperreflexia Spasticity Muscular hypotonia Abnormal central motor function Cognitive impairment Intellectual developmental disorder Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
2
|
No
|
Seizures
Global developmental delay Abnormal central motor function Cognitive impairment Microcephaly Hyperreflexia Autonomic sign/sympt. Intellectual developmental disorder Muscular hypotonia Spasticity Show more (+7) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
17
|
No
|
Seizures
Abnormal central motor function Global developmental delay Spasticity Hyperreflexia Muscular hypotonia Cognitive impairment Intellectual developmental disorder Abnormality of the sense of smell Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
13
|
No
|
Microcephaly
Cognitive impairment Abnormality of the sense of smell Spasticity Intellectual developmental disorder Abnormal central motor function Seizures Global developmental delay Muscular hypotonia Hyperreflexia Autonomic sign/sympt. Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
24
|
No
|
Autonomic sign/sympt.
Hyperreflexia Abnormal central motor function Global developmental delay Spasticity Cognitive impairment Muscular hypotonia Seizures Intellectual developmental disorder Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
25
|
No
|
Muscular hypotonia
Abnormal central motor function Spasticity Intellectual developmental disorder Seizures Hyperreflexia Global developmental delay Cognitive impairment Show more (+5) |
n.a.
|