Global Variome shared LOVD

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Phenotype #0000351270 Individual ID 00465823 Associated disease ? Diagnosis/Initial joint laxity Diagnosis/Definite EDSKSCL2 Phenotype details see paper; ..., Significant skin and joint laxity, excessively redundant umbilical skin, hypotonia, myopathy, global developmental delay, microcephaly, subtle dysmorphic features (sloping forehead, square nasal root, mild hypotelorism and epicanthal folds), patent ductus arteriosus Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-06-07 12:17:17 +02:00 (CEST) Date last edited N/A

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