Global Variome shared LOVD

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

Phenotype #0000237128 Individual ID 00311879 Associated disease DRS Phenotype details see paper; ..., short stature, mesomelic limb shortening, hypertelorism, mandibular hypoplasia, irregular dental alignment, genital hypoplasia; radiography short long bones Diagnosis/Initial Robinow syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite DRS1 Age/Examination - 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 2020-09-29 20:55:58 +02:00 (CEST) Date last edited N/A

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