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