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