Global Variome shared LOVD

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Phenotype #0000242893 Individual ID 00324350 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth 41w, birth weight 3.32kg (p35),; weight p50, height p98, OFC p50; motor development delayed. simple sentences, articulation disorder. good vocabulary. good verbal comprehension; speech furst words 2,5y; mild intelletual disability, can write and read; anxieties, attention/concentration deficit, hand bitting, enuresis, mild relational disorder; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; normal tonus; no seizures; no congenital anomalies; downslant palbebral fissures, ptosis, infra-orbital folds, protruding ears; normal hearing; hypermetropia; good general health, vesical hyperactivity, dry skin; Inheritance Isolated (sporadic) Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Bregje van Bon Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-12-07 19:16:12 +01:00 (CET) Date last edited N/A

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