Global Variome shared LOVD

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Phenotype #0000321879 Individual ID 00431279 Associated disease NPHS Phenotype details 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 Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS2 Age/Examination 8m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-06 20:38:44 +01:00 (CET) Date last edited N/A

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