Global Variome shared LOVD

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Phenotype #0000351244 Individual ID 00465802 Associated disease skeletal dysplasia Diagnosis/Initial skeletal dysplasia Diagnosis/Definite DBQD1 Phenotype details see paper; ..., Pat2A short long bones, increased nuchal thickness, hydropic, relative macrocephaly, prominent eyes, depressed nasal bridge, small nose, midface hypoplasia, small mouth, short neck, narrowed thorax, prominent abdomen, short extremities, over-riding and flexion contracture fingers, postaxial polydactyly right hand, bilateral talipes equinovarus, shortened long bones with mild bowing and widened metaphyses, medial metaphyseal beaking proximal femora, steep acetabular angle, multiple joint dislocations, 6m-deceased respiratory insufficiency Inheritance Familial, autosomal recessive Age/Examination 00y06m (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 2025-06-05 17:13:08 +02:00 (CEST) Date last edited N/A

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