Phenotype #0000055526

Individual ID 00075751
Associated disease CORD
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset <53y
Phenotype/Onset unknown
Phenotype details cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD LP, OS 20/700, dark choroid, retinal pigment epithelium mottling and pigment clumping in periphery, diffuse chorioretinal atrophy in the macula
Protein -
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2016-02-22 12:22:09 +01:00 (CET)
Date last edited N/A

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