Global Variome shared LOVD

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Phenotype #0000351254 Individual ID 00465812 Associated disease ? Diagnosis/Initial Antley-Bixler syndrome Diagnosis/Definite JDSCD Phenotype details see paper; ..., craniosynostosis; no midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; no dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; no cardiovascular abnormalities Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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 19:27:43 +02:00 (CEST) Date last edited N/A

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