All individuals with variants in gene HLA-DQA1

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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00443877 FamDPatV2 PubMed: Chatron 2020 4-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes Iran - - - - - DEE see paper; ..., 1d-myoclonic seizure; 10y-last seizure; EEG at onset dysrhythmia; 10y-last seizure; axial hypotonia, spasticity, dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain normal 1 2 Johan den Dunnen
00443878 FamDPatV3 PubMed: Chatron 2020 sister F yes Iran - - - - - DEE see paper; ..., 7d-epileptic spasms, myoclonic seizure; no seizures reported for 2 m; EEG at onset suppression-burst pattern/burst attenuation; axial hypotonia, mild dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain posterior cervical junction notch 1 1 Johan den Dunnen
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