Global Variome shared LOVD

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Phenotype #0000015265 Individual ID 00016887 Associated disease DBQD2 Phenotype details brith term, heigth 43 cm; 52d height 46 cm, round and flat face, epicanthal folds, short extremities and hands, bilateral simian crease; neonatal period monkey wrench, advanced carpal ossification, short metacarpals and phalanges, widened anterior ribs; 9y patella and elbow subluxation, short iliac wings; 13m height 59 cm; 9y height 99 cm; 13y height 109 cm (-9) OFC 53 cm, coarse and round face, blue sclera, proptotic eyes, short extremities, increased lumbar lordosis, hypermobile joints, pectus excavatum, pes planus, truncal obesity; mild intellectual disability, sit-8m, walk-2y Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-06-05 11:06:11 +02:00 (CEST) Date last edited 2015-12-02 07:51:00 +01:00 (CET)

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