| 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 Spasticity Gait difficulties Seizures Delayed speech and language development Cognitive impairment Developmental delay/intellectual disability Bradykinesia Muscular hypotonia Intellectual developmental disorder Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
No
|
Gait difficulties
Spasticity Developmental delay/intellectual disability Microcephaly Global developmental delay Autonomic sign/sympt. Intellectual developmental disorder Seizures Cognitive impairment Bradykinesia Abnormal central motor function Delayed speech and language development Muscular hypotonia Show more (+10) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
n.a.
|
5
|
n.a.
|
Gait difficulties
Seizures Abnormal central motor function Spasticity Developmental delay/intellectual disability Muscular hypotonia Global developmental delay Delayed speech and language development Intellectual developmental disorder Autonomic sign/sympt. Cognitive impairment Bradykinesia Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
21
|
No
|
Spasticity
Muscular hypotonia Abnormal central motor function Gait difficulties Developmental delay/intellectual disability Intellectual developmental disorder Dystonia (any or unspecified) Cognitive impairment Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
7
|
n.a.
|
Developmental delay/intellectual disability
Abnormal central motor function Cognitive impairment Intellectual developmental disorder Gait difficulties Dystonia (any or unspecified) Spasticity Muscular hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
1
|
No
|
Global developmental delay
Intellectual developmental disorder Developmental delay/intellectual disability Delayed speech and language development Bradykinesia Muscular hypotonia Seizures Abnormal central motor function Cognitive impairment Gait difficulties Spasticity Show more (+8) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
8
|
n.a.
|
Delayed speech and language development
Cognitive impairment Global developmental delay Muscular hypotonia Seizures Autonomic sign/sympt. Spasticity Bradykinesia Gait difficulties Abnormal central motor function Intellectual developmental disorder Developmental delay/intellectual disability Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
No
|
Gait difficulties
Seizures Global developmental delay Spasticity Delayed speech and language development Developmental delay/intellectual disability Bradykinesia Microcephaly Cognitive impairment Muscular hypotonia Abnormal central motor function Intellectual developmental disorder Show more (+9) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
No
|
Intellectual developmental disorder
Cognitive impairment Global developmental delay Autonomic sign/sympt. Abnormal central motor function Developmental delay/intellectual disability Delayed speech and language development Spasticity Muscular hypotonia Microcephaly Seizures Gait difficulties Bradykinesia Show more (+10) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Global developmental delay
Cognitive impairment Spasticity Intellectual developmental disorder Delayed speech and language development Microcephaly Bradykinesia Developmental delay/intellectual disability Seizures Muscular hypotonia Gait difficulties Abnormal central motor function Show more (+9) |
n.a.
|