Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
B
|
OMN
|
0
|
8
|
No
|
Intellectual developmental disorder
Short stature Cognitive impairment Decreased body weight Autonomic sign/sympt. Muscular hypotonia Seizures Abnormal central motor function Hyperreflexia Global developmental delay Oculogyric crisis Spasticity Microcephaly Dystonia (any or unspecified) Show more (+11) |
Dystonia (any or unspecified)
|
|
Yes
|
♀
|
B
|
OMN
|
0
|
5
|
No
|
Seizures
Delayed speech and language development Abnormal central motor function Cognitive impairment Hyperreflexia Muscular hypotonia Dystonia (any or unspecified) Spasticity Global developmental delay Intellectual developmental disorder Show more (+7) |
n.a.
|
|
Yes
|
♀
|
B
|
EGY
|
0
|
3
|
No
|
Global developmental delay
Muscular hypotonia Dystonia (any or unspecified) Short stature Abnormal central motor function Intellectual developmental disorder Spasticity Microcephaly Seizures Decreased body weight Cognitive impairment Delayed speech and language development Show more (+9) |
n.a.
|
|
Yes
|
♀
|
B
|
SAU
|
0
|
1
|
No
|
Cognitive impairment
Seizures Intellectual developmental disorder Spasticity Global developmental delay Abnormal central motor function Short stature Decreased body weight Hyperreflexia Muscular hypotonia Show more (+7) |
Global developmental delay
|
|
Yes
|
♂
|
B
|
SAU
|
0
|
4
|
No
|
Decreased body weight
Cognitive impairment Abnormal central motor function Seizures Dystonia (any or unspecified) Hyperreflexia Intellectual developmental disorder Spasticity Global developmental delay Muscular hypotonia Sleep disorder Short stature Microcephaly Show more (+10) |
Seizures
Muscular hypotonia |
|
Yes
|
♀
|
B
|
SAU
|
0
|
13
|
No
|
Intellectual developmental disorder
Delayed speech and language development Muscular hypotonia Hyperreflexia Show more (+1) |
Muscular hypotonia
|
|
Yes
|
♀
|
B
|
SAU
|
0
|
1
|
No
|
Decreased body weight
Muscular hypotonia Global developmental delay Abnormal central motor function Intellectual developmental disorder Cognitive impairment Short stature Hyperreflexia Spasticity Microcephaly Show more (+7) |
Muscular hypotonia
|
|
Yes
|
♀
|
B
|
SAU
|
1
|
5
|
No
|
Microcephaly
Abnormal central motor function Muscular hypotonia Short stature Global developmental delay Decreased body weight Intellectual developmental disorder Cognitive impairment Spasticity Autonomic sign/sympt. Seizures Hyperreflexia Show more (+9) |
Global developmental delay
|
|
Yes
|
♀
|
B
|
SAU
|
1
|
10
|
No
|
Muscular hypotonia
Autonomic sign/sympt. Hyperreflexia Spasticity Global developmental delay Intellectual developmental disorder Abnormal central motor function Cognitive impairment Seizures Show more (+6) |
Muscular hypotonia
Seizures |