Global Variome shared LOVD

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Phenotype #0000039756 Individual ID 00053031 Associated disease SGS Phenotype details craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; no C1/2 spine malformation; hypotonia; developmental delay; mitral valve prolapse; aortic root dilatation; dural ectasia; no ectopia lentis; no cleft palate; no cleft palate; no club foot deformity; no arterial tortuosity; splenic artery aneurysm Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 43y (43 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 2015-10-29 22:56:24 +01:00 (CET) Date last edited N/A

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