All individuals with variants in gene OSGEP

31 entries on 1 page. Showing entries 1 - 31.
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00095419 - - - F yes Palestine - 06y - yes - DD Hypotonia, microcephaly, speech delay, renal disease (hypomagnesemia) 1 1 Asaf Ta-Shma
00164423 - - - M - (Germany) - - - - - ? Encephalopathy (HP:0001298); Microcephaly (HP:0000252); Nephrotic syndrome (HP:0000100) 1 1 IMGAG
00325393 Pat6 PubMed: Hong 2020 - M - Taiwan - - - - - ? 21d-onset seizures; 6m-deceased; focal seizures; severe cognitive delay 1 1 Johan den Dunnen
00431257 CP PubMed: Braun 2017 - F no - American Indian - - - - NPHS 3.5y-proteinuria, no end stage renal disease, alive with normal renal function; primary microcephaly, developmental delay, hypotonia (trunk), spasticity (lower limbs) coordination disorder, intellectual disability; MRI cranial cerebellar atrophy/ hypoplasia; prominent large ears, frontal bossing, broad nasal bridge, high-arched palate and scarce eyebrows, eczema initially; hypomagnesemia; proteinuria (non-nephrotic), medullary nephro- alcinosis 1 1 Johan den Dunnen
00431258 B377 PubMed: Braun 2017 family, 2 affected, brother died 12d M no China - 3m - - - NPHS 1d-proteinuria; 1m-end stage renal disease; 3m-died; primary microcephaly, developmental delay, opisthotonos; MRI cranial broad gyri and hypoplasia of sulci in frontotemporal areas, possible leukoencephalopathy, subdural fluid collection; hypertelorism, deep-set eyes, micrognathia skeletal: arachnodactyly; oligohydramnios, intrauterine growth restriction (2496 g at 40w ga), lactic aciduria, pulmonary edema, aspiration pneumonia; congenital nephrotic syndrome 1 2 Johan den Dunnen
00431259 B58 PubMed: Braun 2017 - M no Taiwan China 3m - - - NPHS 1d-proteinuria; no end stage renal disease; 3m-died; biopsy minimal change nephrotic syndrome, thin basement membrane nephropathy?; primary microcephaly, seizures, developmental delay; MRI cranial abnormal gyration, diffuse cerebral cortical atrophy; narrow forehead, hypertelorism, epicanthal folds, deep-set eyes, large and floppy left ear , micrognathia vision/hearing: bilateral mild hearing impairment skeletal: arachnodactyly; congenital nephrotic syndrome 1 1 Johan den Dunnen
00431260 15M1869 PubMed: Braun 2017 - F no Taiwan China 3m - - - NPHS 6w-proteinuria; no end stage renal disease; 3m-died; biopsy mild glomerular changes, irregular thickness glomerular basement membrane; primary microcephaly, seizures, hypotonia, developmental delay; MRI cranial subdural fluid accumulations in left frontal temporal parietal and right frontal parietal lobes, lack of myelination; narrow forehead, deep-set eyes, floppy ears, micrognathia skeletal: arachnodactyly vision/hearing: bilateral severe hearing and visual-cortical dysfunction; intrauterine growth restriction (2460 g at term); congenital nephrotic syndrome 1 1 Johan den Dunnen
00431261 15M1870 PubMed: Braun 2017 - M no Taiwan China 98d - - - NPHS 1d-proteinuria; no end stage renal disease; 14w-died; primary microcephaly; MRI cranial simplified gyri and sulci, pachygyria in the frontal lobes, reduced density of the frontal white matter; micrognathia skeletal: arachnodactyly; intrauterine growth restriction (2350 g at 36w ga); congenital nephrotic syndrome 1 1 Johan den Dunnen
00431262 15M2114 PubMed: Braun 2017 - M no Taiwan China 6m - - - NPHS 1m-proteinuria; no end stage renal disease; 6m-died; primary microcephaly; MRI cranial brain atrophy, hypodense cerebral white matter, thin corpus callosum; floppy ears, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (840 g at 28w ga); congenital nephrotic syndrome 1 1 Johan den Dunnen
00431263 15M2118 PubMed: Braun 2017 - M no Taiwan China 5m - - - NPHS 1m-proteinuria; no end stage renal disease; 5m-died; biopsy diffuse foot process effacement; primary microcephaly, abnormal eeg recordings with diffuse cortical dysfunction; MRI cranial cerebral and cerebellar atrophy, simplified frontal and temporal gyration, white matter changes; flat nasal bridge, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (2034 g at 39w ga); congenital nephrotic syndrome 1 1 Johan den Dunnen
00431264 15M2121 PubMed: Braun 2017 - F no Taiwan China 5m - - - NPHS 1m-proteinuria; 2m-end stage renal disease; 5m-died; biopsy foot process effacement irregular glomerular basement membrane; primary microcephaly, poor development, hypotonia, poor sucking power, abnormal eeg; MRI cranial abnormal gyration, cortical dysplasia, periventricular white mater changes, hypomyelination, enlarged subdural spaces and ventricles, mild cerebellar atrophy; micrognathia skeletal: arachnodactyly; intrauterine growth restriction (1760 g at 37w ga); congenital nephrotic syndrome 1 1 Johan den Dunnen
00431265 B63 PubMed: Braun 2017 family, 2 affected sibs M no Taiwan China 5m - - - NPHS 1m-proteinuria; 4m-end stage renal disease; 5m-died; primary microcephaly, seizures, developmental delay, hypotonia; MRI cranial frontal pachygyria, cerebral atrophy, poor myelination, subependymal cysts, bilateral ventricular dilation; prominent occiput, prominent glabella, micrognathia vision/hearing: bilateral auditory and visual dysfunction shown by aep/ visual evoked potential skeletal: camptodactyly, arachnodactyly, clenched hands, mild hip contractures; intrauterine growth restriction, low-positioned nipples, cryptorchidism, relatively small penis; congenital nephrotic syndrome 1 2 Johan den Dunnen
00431266 15M2113 PubMed: Braun 2017 sib F no Taiwan China 3m - - - NPHS 2d-proteinuria; no end stage renal disease; 3m-died; primary microcephaly seizures, hypotonia; MRI cranial simplified frontotemporal gyri and sulci, encephalomalacia; small, narrow forehead, prominent glabella, hypertelorism, deep-set eyes, prominent, floppy ears, micrognathia skeletal: arachnodactyly; larygomalacia, swallowing disturbance, aspiration pneumonia; significant lactic aciduria; congenital nephrotic syndrome 1 1 Johan den Dunnen
00431268 DS PubMed: Braun 2017 - M no - Europe 2m15d - - - NPHS 14d-proteinuria; 2.5m-end stage renal disease; 2.5m-died; primary microcephaly, hypotonia, developmental delay, seizures; MRI cranial pachygria, polymicrogyria skeletal: arachnodactyly, camptodactyly; congenital nephrotic syndrome 1 1 Johan den Dunnen
00431271 B50 PubMed: Braun 2017 - F yes Iran white 2y6m - - - NPHS 4m-proteinuria; 2y-end stage renal disease; 2y6m-died; primary microcephaly, developmental delay, severe intellectual disability, spasticity, seizures; large, floppy ears skeletal: short stature heart: atrial septal defect; preterm birth; infantile steroid resistant nephrotic syndrome syndrome 1 1 Johan den Dunnen
00431272 B57 PubMed: Braun 2017 - M yes - Iran;white;Iraq;Kurdish 2y1m - - - NPHS 5m-proteinuria; 22m-end stage renal disease; 25m-died; biopsy 1om-focal segmental glomerulosclerosis; primary microcephaly, abnormalities in motor development, speech delay, spasticity vision/hearing: strabism skeletal: short stature; steroid resistant nephrotic syndrome (steroid, immuno-suppression, dialysis) 1 1 Johan den Dunnen
00431276 PN553-21 PubMed: Braun 2017 family, 2 affected sibs M yes Turkey - - - - - NPHS initially steroid-sensitive nephrotic syndrome; 13y-proteinuria; no end stage renal disease; alive at present; biopsy focal segmental glomerulosclerosis; diabetes mellitus type II 1 2 Johan den Dunnen
00431277 PN553-22 PubMed: Braun 2017 sib F yes Turkey - - - - - NPHS initially partially steroid-sensitive nephrotic syndrome; 11m--proteinuria; 12y6m-end stage renal disease; 13y-alive; biopsy focal segmental glomerulosclerosis; recurrent headaches, double vision; MRI cranial retro bulbar intra orbital lymphatic malformation; aneurysm of the ascending aorta; nephrotic syndrome 1 1 Johan den Dunnen
00431278 DC PubMed: Braun 2017 - F no Viet Nam;Thailand - 2m15d - - - NPHS 1d-proteinuria; 2m-died; biopsy collapsing focal segmental glomerulosclerosis; primary microcephaly, hypotonia; MRI cranial cerebellar vermis atrophy with prominent interfoliate sulci, thrombosed left transverse sinus, underdeveloped cortical ribbon; hypertelorism, down slanting palpebral fissures heart: atrial septal defect skeletal: camptodactyly (fingers and toes); preterm birth (34w ga); congenital nephrotic syndrome 1 1 Johan den Dunnen
00431280 N2705 PubMed: Braun 2017 family, 2 affected M no - Afro- Caribbean - - - - NPHS 13m-proteinuria, no end stage renal disease, 10y6m-alive with normal renal function; primary microcephaly, developmental delay, aggressive behavior; MRI cranial myelination delay, cerebellar atrophy, atrophy of upper spinal cord and medulla; nephrotic syndrome; older brother 22m-steroid resistant nephrotic syndrome, 14m-died from ESKD 2 2 Johan den Dunnen
00431281 A3729 PubMed: Braun 2017 - F no - Asia 2y - - - NPHS 14m-proteinuria; 2y-died; primary microcephaly, seizures, intellectual disability, delay motor milestones, hypotonia; MRI cranial diffuse brain atrophy, atrophic corpus callosum, smaller ventral pons, enlarged subdural/subarachnoid spaces; ptosis, entropion repair skeletal: short stature; infantile nephrotic syndrome 2 1 Johan den Dunnen
00431282 B69 PubMed: Braun 2017 family, 2 affected sibs M no - white - - - - NPHS 3m-proteinuria, 11m-end stage renal disease; primary microcephaly, seizures, myoclonus, developmental delay; MRI cranial lissencephaly; narrow forehead, large, low-set ears, small mouth, micrognathia skeletal: short stature; hiatal hernia 2 2 Johan den Dunnen
00431283 B70 PubMed: Braun 2017 sib M no - white - - - - NPHS 13m-congenital proteinuria; microcephaly, seizures, spasticity, developmental delay; congenital nephrotic syndrome 2 1 Johan den Dunnen
00431284 B80 PubMed: Braun 2017 - M no - white;Hispanic 19m - - - NPHS 14m-proteinuria; 19m-died; biopsy 15m-focal segmental glomerulosclerosis; primary microcephaly, myoclonic seizures, developmental delay, hypotonia, spasticity; MRI cranial enlarged subdural/subarachnoidal spaces, poor myelination, gyral simplification, cerebellar atrophy; large, floppy ears, pinched nose vision/hearing: visual impairment; nephrotic syndrome 2 1 Johan den Dunnen
00431285 B84 PubMed: Braun 2017 family, 2 affected F no Taiwan China 1y9m - - - NPHS 2d-proteinuria; 1y7m-end stage renal disease; 1y9m-died; primary microcephaly, developmental delay, seizures; MRI cranial pachygyria, bilateral ependymal cyst; broad nose bridge, hypertelorism, large ears, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (1954 g 38w ga); congenital nephrotic syndrome; previous child edema, 5m-renal failure, 13m-died 2 2 Johan den Dunnen
00431288 B1504 PubMed: Braun 2017 - M no - Hispanic - - - - NPHS 6m-proteinuria; 2y-end stage renal disease; alive with end stage renal disease under renal replacement therapy; biopsy 6m-focal segmental glomerulosclerosis; primary microcephaly, hypotonia, hyperreflexia, developmental delay, speech delay; MRI cranial poor myelination; dysmorphism vision/hearing: esotropia, hyperopia skeletal: camptodactyly heart: patent ductus arteriosus, atrial septal defect; infantile nephrotic syndrome 2 1 Johan den Dunnen
00431289 N3741 PubMed: Braun 2017 family, affected brother/sister (F, M) M no Jordan - 6m - - - NPHS 6m-proteinuria; 6m-end stage renal disease; 6m-died; primary microcephaly, developmental delay; MRI cranial cerebral atrophy, bilateral lissencephaly predominantly in frontotemporal regions, thin corpus callosum; low-set ears, hypertelorism, small down ward slanting eyes; infantile nephrotic syndrome 2 2 Johan den Dunnen
00431290 B83 PubMed: Braun 2017 - F no Netherlands - 1m15d - - - NPHS 1m-proteinuria; 1m-end stage renal disease; 6w-died; biopsy diffuse mesangial sclerosis; primary microcephaly, developmental delay; MRI cranial reduced gyration, cerebellar hypoplasia, abnormal myelination; long convex beaked nose, thin upper lip, down turned corners of the mouth, micrognathia, pointed chin skeletal: arachnodactyly, adducted thumbs, dislocated hips, talipes calcaneovalgus (after oligohydramnios); congenital nephrotic syndrome 2 1 Johan den Dunnen
00431291 KW-21 PubMed: Braun 2017 - F no United States - 2y6m - - - NPHS no proteinuria; 2y6m-died; primary microcephaly, seizures; MRI cranial lissencephaly, hypogenesis of corpus callosum; large, floppy ears, unusual fat distribution skeletal: congenital hip dislocation; poor wound healing, mild direct hyperbilirubinemia, elevated ast/ast and alp; no nephrotic syndrome 2 1 Johan den Dunnen
00431292 KW-22 PubMed: Braun 2017 - M no United States - - - - - NPHS no proteinuria; 7m-alive at present; primary microcephaly; MRI cranial lissencephaly; large, floppy ears, unusual fat distribution; poor wound healing; no nephrotic syndrome 2 1 Johan den Dunnen
00431293 B87 PubMed: Braun 2017 - F no United States - - - - - NPHS 19m-proteinuria; biopsy focal segmental glomerulosclerosis; primary microcephaly, seizures, developmental delay, speech delay, repetitive movements, hand tapping; MRI cranial cerebellar atrophy; nephrotic syndrome 2 1 Johan den Dunnen
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