Global Variome shared LOVD

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Phenotype #0000321884 Individual ID 00431284 Associated disease NPHS Phenotype details 14m-proteinuria; 19m-died; biopsy 15m-focal segmental glomerulosclerosis; primary microcephaly, myoclonic seizures, developmental delay, hypotonia, spasticity; MRI cranial enlarged subdural/subarachnoidal spaces, poor myelination, gyral simplification, cerebellar atrophy; large, floppy ears, pinched nose vision/hearing: visual impairment; nephrotic syndrome Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS3 Age/Examination 19m 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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