Global Variome shared LOVD

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Phenotype #0000326895 Individual ID 00436790 Associated disease EVC Phenotype details Neonatal short-limb short stature (HP:0008921), microcephaly (HP:0000252), genu valgum (HP:0002857), bilateral postaxial polydactyly (HP:0006136), no postaxial foot polydactyly (-HP:0001830), nail dysplasia (HP:0002164), nail dystrophy (HP:0008404), 2-3 toe syndactyly (HP:0004691), intellectual disability, mild (HP:0001256). Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Ellis van-Creveld Syndrome Age/Examination 02y (2 years) Age/Diagnosis 02y Age/Onset 00y Phenotype/Onset - Protein - Owner name Jorge Diogo Da Silva Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Jorge Diogo Da Silva Date created 2023-10-07 14:45:55 +02:00 (CEST) Date last edited 2023-10-10 17:58:16 +02:00 (CEST)

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