Global Variome shared LOVD

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

Phenotype #0000295571 Individual ID 00402809 Associated disease MALNS;SOTOS2 Inheritance Familial, autosomal dominant Diagnosis/Initial collagenopathy Age/Examination 13y (13 years) Diagnosis/Definite SOTOS2 Age/Diagnosis - Age/Onset - Phenotype/Onset Exotropia (HP:0000577) Phenotype details Exotropia, severe intellectual disability, tall stature, pectus excavatum, arachnodactyly, dolichostenomelia, dolichocephaly, deeply set eye, tooth malposition. Protein - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2022-02-10 20:15:13 +01:00 (CET) Date last edited 2022-02-16 11:07:05 +01:00 (CET)

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