All individuals with variants in gene LAGE3

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
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00050693 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? drooling, unsteady gait, abnormal facial shape, lactose intolerance 1 1 Johan den Dunnen
00183135 25644381-FamMRX75/D13 PubMed: Hu 2016 family, 1 affected, 4 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 1 Johan den Dunnen
00431270 B65 PubMed: Braun 2017 maternal uncle may be similarly affected M no - Europe - - - - NPHS 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 1 1 Johan den Dunnen
00431273 B60 PubMed: Braun 2017 family, another male affected, younger brother died 8y (variant confirmed) M no Japan - 25y - - - NPHS 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 1 2 Johan den Dunnen
00431279 16M0417 PubMed: Braun 2017 - M no Taiwan China 8m - - - NPHS 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 1 1 Johan den Dunnen
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