Global Variome shared LOVD

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Phenotype #0000172160 Individual ID 00228230 Associated disease ? Diagnosis/Initial DD/ID Diagnosis/Definite - Phenotype details see paper; ..., developmental delay, 15m-walking, delayed speech (18m-words, 27m 2-3 word phrases), no hypotonia; 22m MRI-brain nonspecific, small right frontal subcortical white matter FLAIR hyperintensity; gastroesophageal reflux in infancy, difficulty with regulating self-feeding; normal hair, normal ears; no hearing loss; normal hands/feet; no teeth anomalies; prominent metopic suture, bulbous nasal tip, bifid uvula with normal palate, facial asymmetry Inheritance Isolated (sporadic) Age/Examination 02y03m (2 years, 3 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 2019-03-22 09:01:23 +01:00 (CET) Date last edited 2019-03-22 09:26:50 +01:00 (CET)

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