Global Variome shared LOVD

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Phenotype #0000326299 Individual ID 00436115 Associated disease SEMD Phenotype details see paper; ..., 3m15d-died; birth at term, weight 2,000g (-3.3 SD), length 41.7cm (-4.3 SD); weight 3.3kg (- 4 SD), length 50.3cm (-5 SD); spine anomaly; metaphyseal anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; no hydronephrosis Diagnosis/Initial spondyloepimetaphyseal dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 3m15d Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-08-10 22:14:44 +02:00 (CEST) Date last edited N/A

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