Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000039758 Individual ID 00053033 Associated disease SGS Phenotype details craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; hypotonia; developmental delay; mitral valve prolapse; aortic root dilatation; no ectopia lentis; no cleft palate; club foot deformity Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-10-29 22:56:24 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.