Phenotype #0000301323

Individual ID 00409205
Associated disease -
Phenotype details best corrected visual acuity right, left eye: hand movement, hand movement; full field electroretinogram: severely reduced; fundus left / right eye: not available/ not available; slit-lamp biomicroscopy: pscc; optical coherence tomography right / left eye: not available/ not available; clinical keratoconus: no topographic keratoconus
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite cone-rod dystrophy
Age/Examination 49y (49 years)
Age/Diagnosis -
Age/Onset 12y
Phenotype/Onset decreased visual acuity
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-04 15:19:00 +02:00 (CEST)
Date last edited N/A

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