Global Variome shared LOVD

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

Phenotype #0000170748 Individual ID 00225645 Associated disease - Phenotype details Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma(HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551); Cystic spaces in the inner nuclear layer in OCT Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Variants in the ACO2 gene Age/Examination - Age/Diagnosis 05y Age/Onset 02y Phenotype/Onset - Protein - Owner name Thomas Foulonneau Database submission license No license selected Created by Thomas Foulonneau Date created 2019-02-22 10:09:02 +01:00 (CET) Date last edited 2020-05-18 15:33:09 +02:00 (CEST)

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