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