Phenotype #0000039782

Individual ID 00053057
Associated disease SGS
Phenotype details craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, no scaphocephaly/dolichocephaly, no hypertelorism, proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, mitral valve prolapse, aortic root dilatation, no myopia
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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