Global Variome shared LOVD

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

Phenotype #0000301951 Individual ID 00409836 Associated disease - Phenotype details - Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein substantial reduction of NAD-IDH activity, with about a 300-fold increase in the Km for NAD Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-11 20:50:02 +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.