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