Global Variome shared LOVD

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Phenotype #0000034015 Individual ID 00043752 Associated disease GAMOS1 Phenotype details see paper; focal segmental glomerulosclerosis, podocyte hypertrophy, no end-stage kidney disease; head circumference (5m -2 SD, 10y -3 SDs), hypertonia, ID, spasticity, cerebellar atrophy, thin corpus callosum, subtentorial atrophy, ventricular dilation, facial dysmorphy, abnormal visual evoked potentials, optic atrophy, ... Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - 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 2015-06-16 19:25:04 +02:00 (CEST) Date last edited N/A

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