| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Abnormal central motor function
Global developmental delay Developmental delay/intellectual disability Bradykinesia Intellectual developmental disorder Delayed speech and language development Gait difficulties Seizures Spasticity Cognitive impairment Muscular hypotonia Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
No
|
Muscular hypotonia
Microcephaly Developmental delay/intellectual disability Intellectual developmental disorder Seizures Abnormal central motor function Gait difficulties Delayed speech and language development Cognitive impairment Autonomic sign/sympt. Global developmental delay Spasticity Bradykinesia Show more (+10) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
n.a.
|
5
|
n.a.
|
Cognitive impairment
Bradykinesia Global developmental delay Spasticity Intellectual developmental disorder Seizures Autonomic sign/sympt. Abnormal central motor function Developmental delay/intellectual disability Gait difficulties Delayed speech and language development Muscular hypotonia Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
21
|
No
|
Developmental delay/intellectual disability
Gait difficulties Abnormal central motor function Spasticity Muscular hypotonia Intellectual developmental disorder Cognitive impairment Dystonia (any or unspecified) Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
7
|
n.a.
|
Cognitive impairment
Dystonia (any or unspecified) Gait difficulties Muscular hypotonia Intellectual developmental disorder Spasticity Abnormal central motor function Developmental delay/intellectual disability Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
1
|
No
|
Developmental delay/intellectual disability
Spasticity Muscular hypotonia Abnormal central motor function Intellectual developmental disorder Delayed speech and language development Cognitive impairment Gait difficulties Global developmental delay Bradykinesia Seizures Show more (+8) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
8
|
n.a.
|
Delayed speech and language development
Developmental delay/intellectual disability Seizures Global developmental delay Autonomic sign/sympt. Muscular hypotonia Abnormal central motor function Gait difficulties Spasticity Cognitive impairment Intellectual developmental disorder Bradykinesia Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
No
|
Global developmental delay
Spasticity Seizures Muscular hypotonia Abnormal central motor function Microcephaly Cognitive impairment Gait difficulties Intellectual developmental disorder Bradykinesia Developmental delay/intellectual disability Delayed speech and language development Show more (+9) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
No
|
Intellectual developmental disorder
Microcephaly Developmental delay/intellectual disability Seizures Global developmental delay Gait difficulties Autonomic sign/sympt. Delayed speech and language development Spasticity Cognitive impairment Abnormal central motor function Bradykinesia Muscular hypotonia Show more (+10) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Muscular hypotonia
Intellectual developmental disorder Microcephaly Spasticity Seizures Bradykinesia Gait difficulties Developmental delay/intellectual disability Cognitive impairment Delayed speech and language development Global developmental delay Abnormal central motor function Show more (+9) |
n.a.
|