Global Variome shared LOVD

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Phenotype #0000325146 Individual ID 00434900 Associated disease EVC Phenotype details HP:0000007 Autosomal recessive inheritance HP:0008921 Neonatal short-limb short stature HP:0008873 Disproportionate short-limb short stature HP:0000668 Hypodontia HP:0002857 Genu valgum HP:0001162 Postaxial hand polydactyly HP:0002164 Nail dysplasia HP:0000968 Ectodermal dysplasia Diagnosis/Initial Ellis-van Creveld syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Ellis-van Creveld syndrome Age/Examination 15y (15 years) Age/Diagnosis 15y Age/Onset - Phenotype/Onset - Protein - Owner name Glustein Pozo Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Glustein Pozo Date created 2023-04-13 04:25:48 +02:00 (CEST) Date last edited 2023-04-13 08:40:13 +02:00 (CEST)

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