Global Variome shared LOVD

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

Phenotype #0000268773 Individual ID 00373497 Associated disease - Phenotype details see paper; ... Diagnosis/Initial Alström syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 5m Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-14 19:24:06 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.