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