Phenotype #0000039768

Individual ID	00053043
Associated disease	SGS
Phenotype details	no craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or 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	42y (42 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 11:52:23 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD