Global Variome shared LOVD

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Phenotype #0000249600 Individual ID 00331408 Associated disease skeletal dysplasia Diagnosis/Initial skeletal dysplasia Diagnosis/Definite Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Phenotype details Seizures, Short stature, Brachydactyly, Camptodactyly, Hyperlordosis, Platyspondyly, Hyp Yes Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-02-11 15:29:38 +01:00 (CET) Date last edited N/A

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