All individuals with variants in gene OXR1

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     

ID_report     

Reference     

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Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00269850 Fam1PatII1 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - 0 - - ID hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy; scoliosis 2 1 Johan den Dunnen
00269851 Fam2PatII3 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Maghreb, NW Africa - 0 - - ID hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy 1 1 Johan den Dunnen
00269852 Fam3PatII1 PubMed: Wang 2019 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F yes - Arab 11y 0 - - ID 11y-deceased; no hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy 1 3 Johan den Dunnen
00269853 Fam3PatII2 PubMed: Wang 2019 - M yes - Arab - 0 - - ID hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy; scoliosis 1 1 Johan den Dunnen
00269854 Fam3PatII3 PubMed: Wang 2019 - M yes - Arab - 0 - - ID hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy 1 1 Johan den Dunnen
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