Phenotype #0000138587

Individual ID 00173733
Associated disease ACHM
Phenotype details achromatopsia, total colourblindness, photophobia, nystagmus, 20/200 visual acuity, normal-appearing retina, healthy, normal intelligence; electroretinography older brother revealed normal rod
response, no cone response
Diagnosis/Initial achromatopsia
Inheritance Familial, autosomal recessive
Diagnosis/Definite ACHM-3
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-07-30 22:17:11 +02:00 (CEST)
Date last edited 2018-07-31 21:35:15 +02:00 (CEST)

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