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