Global Variome shared LOVD

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Phenotype #0000034014 Individual ID 00043751 Associated disease GAMOS1 Phenotype details see paper; secondary microcephaly, severe neurological impairment, nephrotic syndrome (one), peripheral hypertonia, axial hypotonia (at 4m), nystagmus (one), epileptic spasms, ID; brain MRI cerebellar atrophy, thin corpus callosum (one), subtentorial atrophy (one); facial dysmorphy, 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 17:23:29 +02:00 (CEST) Date last edited N/A

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