Global Variome shared LOVD

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Phenotype #0000039773 Individual ID 00053048 Associated disease SGS Phenotype details no craniosynostosis, arachnodactyly, no pectus deformity, no scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 13y (13 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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