Global Variome shared LOVD

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Phenotype #0000321857 Individual ID 00431257 Associated disease NPHS Phenotype details 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 Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS3 Age/Examination - 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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