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