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