Phenotype #0000039777

Individual ID	00053052
Associated disease	SGS
Phenotype details	craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, no 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, aortic dilatation requiring surgery (16y, aortic root dilatation with Z score=7.014), vertebrobasilar and internal carotid tortuosity, dilated pulmonary-artery root, no myopia
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-10-30 11:56:35 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD