Phenotype #0000304598

Individual ID 00412606
Associated disease -
Phenotype details retinal disease: retinitis pigmentosa with preserved foveal lamination, epiretinal membrane, cysts in the macula and optic nerve drusen; polydactyly/skeletal anomalies: history of scoliosis 11-12y, never treated, no back problems; liver disease: not tested; no obesity; other features: none
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-01 18:31:23 +02:00 (CEST)
Date last edited N/A

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