Global Variome shared LOVD

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Phenotype #0000359466 Individual ID 00474672 Associated disease skeletal dysplasia Diagnosis/Initial spondyloepiphyseal dysplasia Diagnosis/Definite SEDKF Phenotype details see paper; ..., short stature, special facial features, serious sleep apnea syndrome; 12y-height 137cm, weight 40kg; pectus carinatum, protuberant abdomen, inguinal hernia; joint hypermobility; normal feet; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; no brachydactyly, no genu valgo, no valgus bowing tibia; no hip dysplasia, scoliosis, osteopenia, spondyloepiphyseal dysplasia, developmental delay, no seizures Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) 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 13:43:42 +01:00 (CET) Date last edited 2026-03-20 13:56:53 +01:00 (CET)

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