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