Global Variome shared LOVD

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Phenotype #0000321867 Individual ID 00431267 Associated disease NPHS Phenotype details 4.5y-proteinuria; 6y6m-end stage renal disease; 6.8y-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, global developmental delay, profound intellectual disability, spasticity; MRI cranial marked brain atrophy with prominent cortical sulci, ventriculomegaly, periventricular white matter demyelination; dysmorphism vision/hearing: deafness; deceased due to pneumonia and sepsis.; steroid resistant nephrotic syndrome; previous child had microcephaly, seizures, 7m-renal failure, 13m-died of status epilepticus. Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS5 Age/Examination 6y10m (6 years, 10 months) 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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