Global Variome shared LOVD

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Phenotype #0000024743 Individual ID 00028702 Associated disease MNS Phenotype details see paper; karyotype 46XX, hoarse voice, asymmetric face, prominent eyes, full cheeks, micrognathia, narrow shoulders, excised post-axial polydactyly (left hand), lower limb asymmetry, weight 51 kg, height 162.5 cm, OFC 55.5 cm; X-ray showed mastoid sclerosis, paranasal sinus hypoplasia, irregular clavicles with medial flare, ribbon-like ribs, short scapulae, cortical thickening, anterior concavity thoracic vertebrae, iliac flare, narrow pelvis Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yu Sun Database submission license No license selected Created by Yu Sun Date created 2010-04-02 16:29:25 +02:00 (CEST) Date last edited 2015-01-03 12:23:52 +01:00 (CET)

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