Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000024861 Individual ID 00028853 Associated disease MNS Phenotype details 15y permanent teeth removed (cavities); prominent eyes, full cheeks, micrognathia, thoracolumbar kyphosis; 40y- weight 55 kg, heigth 157.8 cm, OFC 52 cm, sclerosis skull base, paranasal sinus hypoplasia, short scapulae, irregular clavicles with medial flare, ribbon-like ribs, iliac flare, narrow pelvis, bowing long bones Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 40y (40 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen 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 12:11:21 +01:00 (CET)

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