Phenotype #0000039780

Individual ID 00053055
Associated disease SGS
Phenotype details craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, mitral valve prolapse, no aortic root dilatation, no myopia
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 21y (21 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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