Phenotype #0000039781

Individual ID 00053056
Associated disease SGS
Phenotype details craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, no downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, mitral valve prolapse, mitral insufficiency, aortic root dilatation upper normal limit, myopia; 10y died suddenly, autopsy showed severe mitral valve dysplasia with calcifications mitral annulus
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 10y (10 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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