Global Variome shared LOVD

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Phenotype #0000359460 Individual ID 00474667 Associated disease skeletal dysplasia Diagnosis/Initial skeletal dysplasia Diagnosis/Definite SEDKF Phenotype details see paper; ..., 6m-growth height/weight slowed down; 2y-delayed gross motor milestones, normal speech development, normal cognitive development; pectus carinatum, protuberant abdomen, inguinal hernia, no joint hypermobility, normal feet, no cutaneous manifestations, retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis, brachydactyly, no genu valgo, valgus bowing tibia, no hip dysplasia, kyphoscoliosis, osteopenia, spondyloepiphyseal dysplasia, no seizures Inheritance Familial, autosomal recessive Age/Examination 12y06m (12 years, 6 months) 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 11:22:21 +01:00 (CET) Date last edited 2026-03-20 12:06:29 +01:00 (CET)

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