Global Variome shared LOVD

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Phenotype #0000078495 Individual ID 00100272 Associated disease SIHIWES Phenotype details intial clinical diagnosis Schinzel Giedion, social smilenot yet achieved, sit n ot yet achieved, walk not yet achieved, 1st words not yet achieved, Tetralogy of Fallot, abnormal facial shape, coarse facial features, low-set ears, Abnormality of earlobe, Wormian bones, omphalocele, ambiguous genitalia, anteriorly placed anus, poor corticomedullary differentiation on USS of kidneys, small nail, cholesterol abnormalities also considered Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 1y1m (1 year, 1 month) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details birth 37w, weight 2.635 kg (SD -1.95), OFC 33.3 cm (SD -0.05), large fontanelles Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-02-09 20:23:37 +01:00 (CET) Date last edited N/A

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