Global Variome shared LOVD

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Phenotype #0000157590 Individual ID 00208983 Associated disease MR;ID Diagnosis/Initial intellectual disability Diagnosis/Definite EAOH Phenotype details pPerinatal history unremarkable, mature normotrophic newborn (weight 4,000 g, length 53 cm, head circumference 36 cm); inconspicuous infant period; primary developmental disorder with absence of expressive language, moderate mental disability, discrete muscular hypotension, early childhood autism; nonspecific dysmorphic signs with short nose and anteverted nares, small chin, and infraorbital swelling Inheritance Unknown Age/Examination 07y (7 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 17:04:03 +01:00 (CET) Date last edited N/A

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