Phenotypes for disease #00399 (NPHS (nephrotic syndrome (NPHS)))

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0000015301 Steroid Sensitive Nephrotic Syndrome (SSNS) - - Familial, autosomal recessive ? - - - - Marianne Vos (LOVD-team) 00016935
0000015302 Steroid Sensitive Nephrotic Syndrome - - Familial, autosomal recessive ? - - - - Marianne Vos (LOVD-team) 00016936
0000015303 Steroid Resistant Nephrotic Syndrome. 5y:renal histology exhibited minimal change disease, and electron microscopy showed diffusely effaced FPs of podocytes with microvillous changes - - Familial, autosomal recessive ? - - - - Marianne Vos (LOVD-team) 00016937
0000017014 - - - Familial, autosomal recessive - - - - - Elisabet Ars Criach 00018845
0000017212 - - - Familial, autosomal recessive - - - - - Elisabet Ars Criach 00019411
0000017213 - - - Familial, autosomal recessive - - - - - Elisabet Ars Criach 00019412
0000017214 - - - Familial, autosomal recessive - - - - - Elisabet Ars Criach 00019413
0000017689 congenital nephrotic syndrome, haematuria - - Familial, autosomal recessive - - - - - Elisabet Ars Criach 00018452
0000025800 see paper; steroid-resistant nephrotic syndrome (SRNS), renal histology of focal segmental glomerulosclerosis, .. - - Isolated (sporadic) - - - - - Johan den Dunnen 00032334
0000025801 see paper; steroid-resistant nephrotic syndrome (SRNS), .. - - Isolated (sporadic) - - - - - Johan den Dunnen 00032335
0000025802 see paper; steroid-resistant nephrotic syndrome (SRNS), .. - - Isolated (sporadic) - - - - - Johan den Dunnen 00032336
0000025803 see paper; steroid-resistant nephrotic syndrome (SRNS), .. - - Isolated (sporadic) - - - - - Johan den Dunnen 00032337
0000029128 - - - Unknown - - - - - Irene (Eirini) Fylaktou 00038646
0000130053 see paper; ... nephrotic syndrome NPHS-12 Familial, autosomal recessive - - - - - Johan den Dunnen 00165177
0000130054 see paper; ... nephrotic syndrome NPHS-12 Familial, autosomal recessive - - - - - Johan den Dunnen 00165178
0000130055 see paper; ... nephrotic syndrome NPHS-12 Familial, autosomal recessive - - - - - Johan den Dunnen 00165179
0000130056 see paper; ... nephrotic syndrome NPHS-12 Familial, autosomal recessive - - - - - Johan den Dunnen 00165180
0000130057 see paper; ... nephrotic syndrome NPHS-12 Familial, autosomal recessive - - - - - Johan den Dunnen 00165181
0000130058 see paper; ... nephrotic syndrome NPHS-12 Familial, autosomal recessive - - - - - Johan den Dunnen 00165182
0000130059 see paper; ... nephrotic syndrome NPHS-13 Familial, autosomal recessive - - - - - Johan den Dunnen 00165183
0000130060 see paper; ... nephrotic syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00165184
0000130120 steroid resistant nephrotic syndrome without ocular involvement, isolated NS SNRS NPHS-5 Familial, autosomal recessive 13y05m - - - - Aiysha Abid 00165197
0000130121 biopsy focal segmental glomerular sclerosis, isolated steroid resistant nephrotic syndrome without ocular involvement SRNS NPHS5 Familial, autosomal recessive 01y 01y 01y - - Aiysha Abid 00165201
0000170546 see paper; ..., steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis nephrotic syndrome - Familial, X-linked - - - - - Johan den Dunnen 00225429
0000170547 see paper; ..., steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis nephrotic syndrome - Familial, X-linked - - - - - Johan den Dunnen 00225430
0000171341 see paper; ... - - Familial, autosomal recessive - - - - - Johan den Dunnen 00226216
0000175708 see paper; ... dominantly inherited nephrogenic syndrome of inappropriate antidiuresis (NSIAD) - Familial, autosomal dominant - - - - - Johan den Dunnen 00235448
0000175709 see paper; ... dominantly inherited nephrogenic syndrome of inappropriate antidiuresis (NSIAD) - Familial, autosomal dominant - - - - - Johan den Dunnen 00235449
0000238697 biopsy IgM nephropathy; steroid resistant nephrotic syndrome; expired with end stage renal disease nephrotic syndrome NPHS5 Unknown - - 10y - - Aiysha Abid 00314938
0000238698 biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; partial remission with Cyclosporine A nephrotic syndrome NPHS5 Familial, autosomal recessive - - 12y - - Aiysha Abid 00314939
0000238699 steroid resistant nephrotic syndrome; no response nephrotic syndrome NPHS1 Familial, autosomal recessive - - - - - Aiysha Abid 00314940
0000238700 biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; nephrotic syndrome NPHS2 Unknown - - 2y - - Aiysha Abid 00314941
0000238701 biopsy mesengial proliferative glomerulonephritis; steroid resistant nephrotic syndrome; end stage renal disease nephrotic syndrome NPHS2 Unknown - - 3y - - Aiysha Abid 00314942
0000238702 biopsy mesengial proliferative glomerulonephritis; steroid resistant nephrotic syndrome; no response nephrotic syndrome - Unknown - - 2y - - Aiysha Abid 00314943
0000238703 biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; partial remission nephrotic syndrome - Unknown - - - - - Aiysha Abid 00314944
0000238704 biopsy minimal change disease; steroid resistant nephrotic syndrome; maintained on ACEI 5y follow up nephrotic syndrome - Unknown - - 2y - - Aiysha Abid 00314945
0000238705 steroid resistant nephrotic syndrome; in remission nephrotic syndrome - Unknown - - 5y - - Aiysha Abid 00314946
0000238706 biopsy minimal change disease; steroid resistant nephrotic syndrome; switched to Tac due toCyclosporine A toxicity, partial remission nephrotic syndrome - Familial - - 2y - - Aiysha Abid 00314947
0000238707 biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; in remission after Cyclosporine A nephrotic syndrome - Unknown - - 3y - - Aiysha Abid 00314948
0000238708 biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; end stage renal disease nephrotic syndrome - Unknown - - 3y - - Aiysha Abid 00314949
0000238709 biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; nephrotic syndrome - Unknown - - 5y6m - - Aiysha Abid 00314950
0000238710 biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; in remission after Cyclosporine A nephrotic syndrome - Unknown - - 5y - - Aiysha Abid 00314951
0000238711 steroid resistant nephrotic syndrome nephrotic syndrome - Unknown - - 1y5m - - Aiysha Abid 00314952
0000238712 steroid resistant nephrotic syndrome nephrotic syndrome - Unknown - - 3y - - Aiysha Abid 00314953
0000238713 biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; end stage renal disease nephrotic syndrome - Familial - - 14y - - Aiysha Abid 00314954
0000238714 biopsy mesengial proliferative glomerulonephritis; steroid resistant nephrotic syndrome; end stage renal disease nephrotic syndrome - Unknown - - 3y - - Aiysha Abid 00314955
0000242684 see paper; ..., steroid-resistant nephrotic syndrome nephrotic syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00324103
0000242685 see paper; ..., steroid-resistant nephrotic syndrome nephrotic syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00324104
0000242686 see paper; ..., nephrotic syndrome nephrotic syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00324105
0000242687 see paper; ..., steroid-resistant nephrotic syndrome nephrotic syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00324106
0000253862 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00003250
0000253865 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00003251
0000321857 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00431257
0000321858 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 3m - - - - Johan den Dunnen 00431258
0000321859 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 3m - - - - Johan den Dunnen 00431259
0000321860 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 3m - - - - Johan den Dunnen 00431260
0000321861 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 98d - - - - Johan den Dunnen 00431261
0000321862 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 6m - - - - Johan den Dunnen 00431262
0000321863 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 5m - - - - Johan den Dunnen 00431263
0000321864 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 5m - - - - Johan den Dunnen 00431264
0000321865 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 5m - - - - Johan den Dunnen 00431265
0000321866 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 3m - - - - Johan den Dunnen 00431266
0000321867 4.5y-proteinuria; 6y6m-end stage renal disease; 6.8y-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, global developmental delay, profound intellectual disability, spasticity; MRI cranial marked brain atrophy with prominent cortical sulci, ventriculomegaly, periventricular white matter demyelination; dysmorphism vision/hearing: deafness; deceased due to pneumonia and sepsis.; steroid resistant nephrotic syndrome; previous child had microcephaly, seizures, 7m-renal failure, 13m-died of status epilepticus. nephrotic syndrome GAMOS5 Familial, autosomal recessive 6y10m - - - - Johan den Dunnen 00431267
0000321868 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 2m15d - - - - Johan den Dunnen 00431268
0000321869 3.8y-proteinuria; no end stage renal disease; 6y-alive with normal renal function; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, mild intellectual disability, progressive spasticity (wheelchair bound at 5.5y), coordination disorder, ataxia; MRI cranial pachygyria, periventricular leukomalacia; elongated face, epicanthal folds, slight hypertelorism, deep-set eyes, fleshy ear lobules, prominent chin; steroid resistant nephrotic syndrome (nephrotic range proteinuria, no edema, serum albumin 3.9 g/L) nephrotic syndrome GAMOS5 Familial, autosomal recessive 6y - - - - Johan den Dunnen 00431269
0000321870 4m-proteinuria; 5m-end stage renal disease; alive with end stage renal disease under renal replacement therapy; biopsy 4m-minimal change nephrotic syndrome; primary microcephaly, seizures, spasticity, developmental delay, severe intellectual disability; MRI cranial enlarged subdural/subarachnoid spaces, cerebellar atrophy/hypoplasia, abnormal myelination vision/hearing: nystagmus skeletal: short stature; bilateral vur III, swallowing difficulties (percutaneous endoscopic gastrostomy); infantile nephrotic syndrome nephrotic syndrome GAMOS2 Familial, autosomal recessive - - - - - Johan den Dunnen 00431270
0000321871 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 2y6m - - - - Johan den Dunnen 00431271
0000321872 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) nephrotic syndrome GAMOS3 Familial, autosomal recessive 2y1m - - - - Johan den Dunnen 00431272
0000321873 2y-proteinuria; 8y-end stage renal disease; 25y-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, intellectual disability, hypotonia, dysmetria; MRI cranial polymicrogyria, poor myelination of the cerebral white matter, diffuse cerebellar atrophy; narrow forehead, high arched palate, micrognathia skeletal: scoliosis, arachnodactyly; nephrotic syndrome nephrotic syndrome GAMOS2 Familial, autosomal recessive 25y - - - - Johan den Dunnen 00431273
0000321874 10m-proteinuria; 3y-end stage renal disease; 3y-died; primary microcephaly, developmental delay, hypotonia; MRI cranial bilateral myelination defects vision/hearing: reduced visual evoked potential; nephrotic syndrome nephrotic syndrome GAMOS4 Familial, autosomal recessive 3y - - - - Johan den Dunnen 00431274
0000321875 1y-proteinuria; 2y6m-died; primary microcephaly, developmental delay; MRI cranial cerebral atrophy; large and protruding ears, hypertelorism; nephrotic syndrome nephrotic syndrome GAMOS4 Familial, autosomal recessive - - - - - Johan den Dunnen 00431275
0000321876 initially steroid-sensitive nephrotic syndrome; 13y-proteinuria; no end stage renal disease; alive at present; biopsy focal segmental glomerulosclerosis; diabetes mellitus type II nephrotic syndrome GAMOS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00431276
0000321877 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00431277
0000321878 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 2m15d - - - - Johan den Dunnen 00431278
0000321879 3m-proteinuria; 7m-end stage renal disease; 8m-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, hypotonia with intermittent spasticity, epilepsy; MRI cranial mild brain atrophy; small, narrow forehead, micrognathia skeletal: short stature; intrauterine growth restriction (1806 g at 36w ga), severe maternal preeclampsia, feeding difficulty, hypertension, multiple episodes of sepsis, spontaneous bacterial peritonitis, multiple bullous skin defects; infantile nephrotic syndrome nephrotic syndrome GAMOS2 Familial, autosomal recessive 8m - - - - Johan den Dunnen 00431279
0000321880 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 10y6m - - - - Johan den Dunnen 00431280
0000321881 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 2y - - - - Johan den Dunnen 00431281
0000321882 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00431282
0000321883 13m-congenital proteinuria; microcephaly, seizures, spasticity, developmental delay; congenital nephrotic syndrome nephrotic syndrome GAMOS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00431283
0000321884 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 19m - - - - Johan den Dunnen 00431284
0000321885 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 1y9m - - - - Johan den Dunnen 00431285
0000321886 2m-end stage renal disease; 11m-died; biopsy 1y-focal segmental glomerulosclerosis; primary microcephaly, seizures, developmental delay, speech delay, cognitive impairment, hypotonia, spasticity; MRI cranial polymicrogyria; plagiocephaly and prominent glabella, large ears skeletal: short stature, tapered fingers; feeding difficulties, multiple hypo and hyper- pigmented macules over the abdomen and limbs. primary microcephaly, seizures, hypotonia; MRI cranial cerebellar hypoplasia, polymicrogyria; dysmorphism; congenital nephrotic syndrome nephrotic syndrome GAMOS4 Familial, autosomal recessive 11m - - - - Johan den Dunnen 00431286
0000321887 2m-proteinuria; 2.5m-died; biopsy diffuse mesangial sclerosis; primary microcephaly, seizures, developmental delay, speech delay, cognitive impairment, hypotonia, spasticity; MRI cranial polymicrogyria; plagiocephaly and prominent glabella, large ears skeletal: short stature, tapered fingers; feeding difficulties, multiple hypo and hyper- pigmented macules over the abdomen and limbs. primary microcephaly, seizures, hypotonia; MRI cranial cerebellar hypoplasia, polymicrogyria; dysmorphism.; congenital nephrotic syndrome congenital nephrotic syndrome nephrotic syndrome GAMOS4 Familial, autosomal recessive 2m15d - - - - Johan den Dunnen 00431287
0000321888 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00431288
0000321889 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 6m - - - - Johan den Dunnen 00431289
0000321890 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 1m15d - - - - Johan den Dunnen 00431290
0000321891 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 nephrotic syndrome GAMOS3 Familial, autosomal recessive 2y6m - - - - Johan den Dunnen 00431291
0000321892 no proteinuria; 7m-alive at present; primary microcephaly; MRI cranial lissencephaly; large, floppy ears, unusual fat distribution; poor wound healing; no nephrotic syndrome nephrotic syndrome GAMOS3 Familial, autosomal recessive 7m - - - - Johan den Dunnen 00431292
0000321893 19m-proteinuria; biopsy focal segmental glomerulosclerosis; primary microcephaly, seizures, developmental delay, speech delay, repetitive movements, hand tapping; MRI cranial cerebellar atrophy; nephrotic syndrome nephrotic syndrome GAMOS3 Familial, autosomal recessive - - - - - Johan den Dunnen 00431293
0000346253 HP:0000100 - NPHS1 Isolated (sporadic) - - - - - Marketa Wayhelova 00457804
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