Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
No
|
Sleep benefit
Intellectual developmental disorder Hypotonia Dystonia (any or unspecified) Delayed motor development Cognitive impairment Developmental delay Spasticity Show more (+5) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
0
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Developmental delay Intellectual developmental disorder Delayed motor development Cognitive impairment Oculogyric crisis Diurnal fluctuations Sleep benefit Hypotonia Spasticity Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
0
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Sleep benefit Developmental delay Hypotonia Oculogyric crisis Delayed motor development Diurnal fluctuations Cognitive impairment Intellectual developmental disorder Spasticity Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
0
|
2
|
n.a.
|
Cognitive impairment
Sleep benefit Intellectual developmental disorder Developmental delay Rigidity Hypotonia Diurnal fluctuations Oculogyric crisis Dystonia (any or unspecified) Delayed motor development Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Spasticity
Sleep benefit Hypotonia Dystonia (any or unspecified) Cognitive impairment Intellectual developmental disorder Delayed motor development Developmental delay Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
No
|
Delayed motor development
Developmental delay Dystonia (any or unspecified) Sleep benefit Cognitive impairment Spasticity Intellectual developmental disorder Hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
0
|
2
|
n.a.
|
Dystonia (any or unspecified)
Delayed motor development Hypotonia Sleep benefit Rigidity Oculogyric crisis Cognitive impairment Developmental delay Diurnal fluctuations Intellectual developmental disorder Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Spasticity Intellectual developmental disorder Developmental delay Delayed motor development Cognitive impairment Hypotonia Sleep benefit Show more (+5) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Intellectual developmental disorder
Spasticity Dystonia (any or unspecified) Sleep benefit Developmental delay Delayed motor development Hypotonia Cognitive impairment Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Intellectual developmental disorder
Cognitive impairment Delayed motor development Sleep benefit Dystonia (any or unspecified) Spasticity Hypotonia Developmental delay Show more (+5) |
n.a.
|