Global Variome shared LOVD

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Phenotype #0000081804 Individual ID 00103223 Associated disease SGBS Phenotype details pre- and postnatal overgrowth syndrome with intellectual disability and congenital malformations; birth 37w weight 4010g, length 56cm, OFC 36 cm; 01y09m weight 15kg, length 89.3cm, OFC 50.5cm; coarse face (HP:0000280), hypertelorism (HP:0000316), epicanthal folds (HP:0000286), short nose (HP:0003196), broad nasal bridge (HP:0000431), prognatism (HP:0000303), macrostomia (HP:0000154), macroglossia (HP:0000158), downturned lower lip (HP:0000232), bifid uvula (HP:0000193), low-set posteriorly rotated ears (HP:0000368), arched eyebrows (HP:0002553) Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 01y09m (1 year, 9 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 23:24:03 +02:00 (CEST) Date last edited N/A

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