Global Variome shared LOVD

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Phenotype #0000326297 Individual ID 00436113 Associated disease SEMD Phenotype details see paper; ..., fetal ultrasound hydronephrosis, birth at term; weight 26kg (-5 SD), length 128cm (-7 SD); spine anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; hydronephrosis; no intellectual disability/developmental delay Diagnosis/Initial spondyloepimetaphyseal dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 26y (26 years) 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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