Global Variome shared LOVD

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

Phenotype #0000308969 Individual ID 00417483 Associated disease BBS Phenotype details 49y: based on four major features (retinitis pigmentosa, obesity, kidney failure, cognitive disability) and one minor feature (brachydactyly), diagnosed with BBS; 53y: end-stage renal failure; severe visual impairment (light perception, dense cataracts, retinal dystrophy), obesity (BMI: 37.7), behavioral dysfunction, learning difficulties (understood simple orders but never learned to read or write) and brachydactyly Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 53y (53 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-17 18:08:21 +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.