| 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
|
Abnormality of the sense of smell
Microcephaly Cognitive impairment Intellectual developmental disorder Spasticity Autonomic sign/sympt. Hyperreflexia Abnormal central motor function Muscular hypotonia Global developmental delay Seizures Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
15
|
No
|
Autonomic sign/sympt.
Abnormal central motor function Microcephaly Cognitive impairment Muscular hypotonia Abnormality of the sense of smell Spasticity Hyperreflexia Global developmental delay Seizures Intellectual developmental disorder Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
28
|
No
|
Spasticity
Cognitive impairment Global developmental delay Seizures Abnormal central motor function Muscular hypotonia Hyperreflexia Intellectual developmental disorder Show more (+5) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
18
|
No
|
Hyperreflexia
Abnormal central motor function Intellectual developmental disorder Spasticity Global developmental delay Muscular hypotonia Cognitive impairment Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
33
|
No
|
Cognitive impairment
Muscular hypotonia Spasticity Global developmental delay Abnormal central motor function Hyperreflexia Intellectual developmental disorder Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
2
|
No
|
Seizures
Autonomic sign/sympt. Hyperreflexia Muscular hypotonia Abnormal central motor function Intellectual developmental disorder Spasticity Cognitive impairment Microcephaly Global developmental delay Show more (+7) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
17
|
No
|
Spasticity
Abnormality of the sense of smell Cognitive impairment Abnormal central motor function Seizures Intellectual developmental disorder Global developmental delay Hyperreflexia Muscular hypotonia Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
13
|
No
|
Seizures
Spasticity Autonomic sign/sympt. Global developmental delay Abnormality of the sense of smell Microcephaly Abnormal central motor function Intellectual developmental disorder Hyperreflexia Muscular hypotonia Cognitive impairment Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
24
|
No
|
Autonomic sign/sympt.
Hyperreflexia Abnormal central motor function Spasticity Cognitive impairment Muscular hypotonia Global developmental delay Intellectual developmental disorder Seizures Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
25
|
No
|
Intellectual developmental disorder
Seizures Muscular hypotonia Global developmental delay Abnormal central motor function Spasticity Cognitive impairment Hyperreflexia Show more (+5) |
n.a.
|