Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000321889 Individual ID 00431289 Associated disease NPHS Phenotype details 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 Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS3 Age/Examination 6m 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.