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