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