Global Variome shared LOVD

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Phenotype #0000359464 Individual ID 00474670 Associated disease skeletal dysplasia Diagnosis/Initial spondyloepimetaphyseal dysplasia Diagnosis/Definite SEDKF Phenotype details see paper; ..., 34wg-premature birth, weight 1,970g (-Z-0.38), length 41 -cm (Z-1.13), FC 31 cm (Z-0.24); 3y-short stature, rhizomelic limb shortening, severe retromicrognathia; 5.7y-height 79cm, weight 9kg; pectus carinatum, protuberant abdomen, no inguinal hernia, no joint hypermobility, normal feet; no cutaneous manifestations; large ears, abnormal ears; cataract; craniosynostosis; no brachydactyly, no genu valgo, no valgus bowing tibia, no hip dysplasia, kyphosis, osteopenia, spondyloepiphyseal dysplasia, developmental delay, motor delay, seizures Inheritance Familial, autosomal recessive Age/Examination 5.7y Age/Diagnosis - 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 2026-03-20 13:24:09 +01:00 (CET) Date last edited N/A

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