Global Variome shared LOVD

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

Phenotype #0000138590 Individual ID 00173737 Associated disease ACHM Phenotype details horizontal nystagmus, marked photophobia; normal electroretinographic rod response, no detectable cone response Diagnosis/Initial achromatopsia Inheritance Familial, autosomal recessive Diagnosis/Definite ACHM-3 Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-07-31 21:39:54 +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.