Phenotype #0000275805

Global Variome shared LOVD

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

Individual ID	00381963
Associated disease	-
Phenotype details	visual acuity : od: 0.4 , os: 0.3; fundus: absent foveal reflex, otherwise normal; color vision: impaired; electroretinography: scotopic: normal, 30 hz flicker + , photopic: severely abnormal; photophobia: no; nystagmus : yes; progression: no
Diagnosis/Initial	achromatopsia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	5y6m (5 years, 6 months)
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-09-06 15:38:00 +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.