Global Variome shared LOVD

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Phenotype #0000081801 Individual ID 00103232 Associated disease SGBS Phenotype details Simpson–Golabi–Behmel syndrome; birth 38w, weight 4410g, length 51cm, OFC 36.5cm; 27m (02y03m) weight 11.1kg, length 75cm, OFC 47cm; Congenital overgrowth (HP:0001548), Postnatal overgrowth (HP:0001548), Coarse face (HP:0000280), Macroglossia (HP:0000158), macrostomia (HP:0000154), Congenital heart defect (HP:0001627), Speech delay (HP:0000750), Intellectual disability (HP:0001249), ... Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 02y03m (2 years, 3 months) Age/Onset 00y00m00d Phenotype/Onset - Protein - Owner name Lynn Boekhoudt Database submission license No license selected Created by Johan den Dunnen Date created 2017-04-21 22:58:07 +02:00 (CEST) Date last edited N/A

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