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