Global Variome shared LOVD

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Phenotype #0000079490 Individual ID 00101246 Associated disease ? Diagnosis/Initial overgrowth syndrome Diagnosis/Definite Tatton-Brown-Rahman syndrome Phenotype details Overgrowth syndrome with intellectual disability; Height (3.4 SD), OFC (5.1 SD); mild intellectual disability (HP:0001256),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098), mild hemihypertrophy (HP:0001528), umbilical hernia (HP:0001537). Inheritance - Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset 00y00m00d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Lynn Boekhoudt Database submission license No license selected Created by Lynn Boekhoudt Date created 2017-03-24 11:54:44 +01:00 (CET) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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