Global Variome shared LOVD

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

Phenotype #0000246728 Individual ID 00328502 Associated disease - Phenotype details cone dysfunction syndrome (HP:0030637), language delay (HP:0002474) Diagnosis/Initial cone dysfunction syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-01-28 09:35:56 +01:00 (CET) Date last edited N/A

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