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