Global Variome shared LOVD

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

Phenotype #0000279120 Individual ID 00385324 Associated disease - Phenotype details retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Diabetes, Asthma, DislipidemiaOutset gait, genu valgum, Growth hormone Diagnosis/Initial Bardet–Biedl Syndrome (BBS) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 8y6m (8 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-10-09 03:44:00 +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.