Global Variome shared LOVD

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Phenotype #0000321866 Individual ID 00431266 Associated disease NPHS Phenotype details 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 Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS3 Age/Examination 3m 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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