Global Variome shared LOVD

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Phenotype #0000039794 Individual ID 00053069 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details non-SGS Marfanoid-craniosynostosis; craniosynostosis, arachnodactyly, no pectus deformity, scoliosis, no joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, no intellectual disability, hernias, no loss of subcutaneous fat, valvular anomalies, aortic root dilatation required surgery in childhood, myopia Inheritance Isolated (sporadic) Age/Examination 06y (6 years) 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 2015-10-30 13:38:36 +01:00 (CET) Date last edited N/A

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