Phenotype #0000174257

Global Variome shared LOVD

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

Individual ID	00233827
Associated disease	?
Diagnosis/Initial	cone-rod dystrophy
Diagnosis/Definite	-
Phenotype details	visual acuity now R-20/400 L-20/400; central scotoma (HP:0000603); mild central vision defect; ERG rod-normal
Inheritance	Familial, autosomal recessive
Age/Examination	16y (16 years)
Age/Diagnosis	14y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Terry-Lynn Young
Database submission license	No license selected
Created by	Jim Houston
Date created	2019-03-20 11:55:21 +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.