Global Variome shared LOVD

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Phenotype #0000298408 Individual ID 00405911 Associated disease SRTD Diagnosis/Initial Jeune syndrome/Ellis-van Creveld syndrome Diagnosis/Definite Jeune syndrome/Ellis-van Creveld syndrome Phenotype details Dysplastic nails, short stature, narrow thorax, limb shortening, bilateral hads and feet postaxial polydactyly, brachydactyly, hand-feet syndactyly, hypertrabeculature of left ventricle apex, renal anaomalies Inheritance Familial, autosomal recessive Age/Examination 00y04m (4 months) Age/Diagnosis 00y04m Age/Onset - Phenotype/Onset - Owner name Alessandro De Luca Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Alessandro De Luca Date created 2022-03-23 13:30:42 +01:00 (CET) Date last edited 2022-03-28 10:38:23 +02:00 (CEST)

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