Global Variome shared LOVD

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Phenotype #0000157589 Individual ID 00208982 Associated disease MR;ID Diagnosis/Initial intellectual disability Diagnosis/Definite EAOH Phenotype details perinatal history unremarkable, transmitted hypotrophic newborn (weight 2,500 g, length 50 cm, head circumference never measured); inconspicuous infant period; global developmental disorder with expressive language development disorder, suspected mental retardation, autistic behavioral traits, axial hypotension; nonspecific dysmorphic stigmata with prominent forehead, broad nasal root, hypertelorism, epicanthus, deep-seated ears Inheritance Unknown Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-12-20 16:57:20 +01:00 (CET) Date last edited 2018-12-20 17:15:26 +01:00 (CET)

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