Phenotype #0000321881

Individual ID 00431281
Associated disease NPHS
Phenotype details 14m-proteinuria; 2y-died; primary microcephaly, seizures, intellectual disability, delay motor milestones, hypotonia; MRI cranial diffuse brain atrophy, atrophic corpus callosum, smaller ventral pons, enlarged subdural/subarachnoid spaces; ptosis, entropion repair skeletal: short stature; infantile nephrotic syndrome
Diagnosis/Initial nephrotic syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite GAMOS3
Age/Examination 2y (2 years)
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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