Global Variome shared LOVD

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Phenotype #0000257466 Individual ID 00362053 Associated disease ? Diagnosis/Initial hypotonia Diagnosis/Definite - Phenotype details hypotonia; no short stature; normal face; vesicoureteric reflux and renal dysplasia, recurrent urinary-tract infections; 4y-gait ataxia; truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); recent episodes suggestive of seizures are being analyzed by video telemetry; progressive microcephaly; nystagmus; no saccadic abnormalities; no jerky eye movements; Duane anomaly; 18m-head control; 2y-sit; not standing; not walking; no speech; special school; normal behavior; MRI brain normal Inheritance Isolated (sporadic) Age/Examination 4y8m (4 years, 8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-15 11:18:09 +02:00 (CEST) Date last edited N/A

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