Phenotype #0000245786

Individual ID 00327505
Associated disease -
Phenotype details see paper; ..., early-onset retinal dystrophy (HP:0000556), nyctalopia (HP:0000662), retinal pigment epithelial mottling (HP:0007814), macular staphyloma
Diagnosis/Initial retinital dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite RDMS
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Mariah De Bruin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-01-22 17:16:18 +01:00 (CET)
Date last edited 2021-01-27 19:28:12 +01:00 (CET)

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