Global Variome shared LOVD

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Phenotype #0000321878 Individual ID 00431278 Associated disease NPHS Phenotype details 1d-proteinuria; 2m-died; biopsy collapsing focal segmental glomerulosclerosis; primary microcephaly, hypotonia; MRI cranial cerebellar vermis atrophy with prominent interfoliate sulci, thrombosed left transverse sinus, underdeveloped cortical ribbon; hypertelorism, down slanting palpebral fissures heart: atrial septal defect skeletal: camptodactyly (fingers and toes); preterm birth (34w ga); congenital nephrotic syndrome Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS3 Age/Examination 2m15d 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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