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