Global Variome shared LOVD

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Phenotype #0000039783 Individual ID 00053058 Associated disease SGS Phenotype details no craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, mitral valve prolapse, mitral insufficiency, aortic root dilatation, myopia Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 32y (32 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 2015-10-30 11:56:35 +01:00 (CET) Date last edited N/A

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