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