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