Global Variome shared LOVD

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

Phenotype #0000306592 Individual ID 00414792 Associated disease - Phenotype details see paper; ..., isolated cone dysfunction, bilateral optic atrophy, Pelger-Huët anomaly, no short stature, no recurrent acute liver failure, no susceptibility to infections Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Nicole Weisschuh Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Nicole Weisschuh Date created 2022-08-05 08:56:21 +02:00 (CEST) Date last edited 2022-12-23 14:27:51 +01:00 (CET)

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