All individuals with variants in gene OXR1

7 entries on 1 page. Showing entries 1 - 7.
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00269850 Fam1PatII1 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - - - - 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 - - - - 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 - - - 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 - - - - 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 - - - - ID hypotonia; developmental delay; intellectual disability; speech delay; epilepsy; cerebellar dysplasia/atrophy 1 1 Johan den Dunnen
00459419 Fam4PatII1 PubMed: Bayam 2024 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Italy Cilento - - - - NDD see paperp; C-section due to failure dilatation uterine cervix; birth 40w, elective C-section, weight 3.52kg, length 52cm, OFC 35cm; weight 8,6kg (-1 SD), length 78cm (+1.5 SD), OFC 42.9cm (-2.69 SD); profound global development delay; bedridden; speech global hyporeactivity; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects 1 1 Johan den Dunnen
00459420 Fam4PatII3 PubMed: Bayam 2024 sister F yes Italy Cilento - - - - NDD see paper; ..., pregnancy unremarkable; birth 40w, elective C-section, weight 3.35kg, length 51cm, OFC 35cm; weight 5kg (-1 SD), length 70cm (+1 SD), OFC 40cm (-1.93 SD); profound global development dela; bedridden; speech no meaningful words; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects 1 1 Johan den Dunnen
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