Global Variome shared LOVD

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Phenotype #0000242917 Individual ID 00324374 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details weight p18, height p25, OFC p25; motor development speech absent at 4 ys. impairement of expressive speech. repetitive and poorly understandable speech; severe intelletual disability; queit slightly apathic behavior. sociable in familiar setting; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; normal tonus; no seizures; 3.5y-MRI brain normal; brachycephaly, low-set anterior hairline, low-set ears, downslant palbebral fissures, hypertelorism, ptosis; winged scapulae; hypermetropia astigmatism; Inheritance Isolated (sporadic) Age/Examination 19y (19 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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