Phenotype #0000321871

Individual ID 00431271
Associated disease NPHS
Phenotype details 4m-proteinuria; 2y-end stage renal disease; 2y6m-died; primary microcephaly, developmental delay, severe intellectual disability, spasticity, seizures; large, floppy ears skeletal: short stature heart: atrial septal defect; preterm birth; infantile steroid resistant nephrotic syndrome syndrome
Diagnosis/Initial nephrotic syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite GAMOS3
Age/Examination 2y6m (2 years, 6 months)
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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