Global Variome shared LOVD

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

Phenotype #0000039333 Individual ID 00052756 Associated disease CORD Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 6y Phenotype/Onset fine oscillatory nystagmus was described. There was a moderate hypermetropic in both eyes. Some form of ocular albinism was suspected Phenotype details cone-rod dystrophy; slightly increased granularity in the macula, together with decreased muscular reflex, minimal thinning of the retinal arteries and increased granularity of the RPE in the periphery, together with a very blond fundus in the circumpapillary area Protein - Owner name Muhammad Ajmal Database submission license No license selected Created by Muhammad Ajmal Date created 2015-10-26 17:05:36 +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.