Phenotype #0000321858

Individual ID 00431258
Associated disease NPHS
Phenotype details 1d-proteinuria; 1m-end stage renal disease; 3m-died; primary microcephaly, developmental delay, opisthotonos; MRI cranial broad gyri and hypoplasia of sulci in frontotemporal areas, possible leukoencephalopathy, subdural fluid collection; hypertelorism, deep-set eyes, micrognathia skeletal: arachnodactyly; oligohydramnios, intrauterine growth restriction (2496 g at 40w ga), lactic aciduria, pulmonary edema, aspiration pneumonia; 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 InternationalCreative Commons License
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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