Phenotype #0000288812

Individual ID 00395614
Associated disease -
Phenotype details cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa, intellectual disability, renal abnormalities
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 2021-12-08 14:12:08 +01:00 (CET)
Date last edited N/A

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