Global Variome shared LOVD

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

Phenotype #0000015260 Individual ID 00016858 Associated disease DBQD2 Phenotype details birth heigth 37cm; hyperlaxity, respiratory distress, hypotonia, flat face, monkey wrench of the femoral neck, epiphyseal dysplasia, knee dislocation, advanced carpal bone age; 24y heigth 111.5 cm (<-6), mild intellectual disability Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 24y (24 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 2014-06-03 20:09:21 +02:00 (CEST) Date last edited 2015-12-02 07:08:43 +01:00 (CET)

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