Phenotype #0000039771

Individual ID	00053046
Associated disease	SGS
Phenotype details	no craniosynostosis, arachnodactyly, no pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no 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	11y (11 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