Global Variome shared LOVD

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Phenotype #0000258605 Individual ID 00363240 Associated disease USH Diagnosis/Initial Usher syndrome, atypical; Heimler syndrome Diagnosis/Definite - Phenotype details 22m-profound hearing loss (80 dB), hepatosplenomegaly, elevation of liver enzymes (persistant); 5y6m-retinitis punctata albescens with macular involvement,significant visual loss; opacities deciduous teeth indicated thin enamel, permanent teeth severe enamel dysplasia in terms of amelogenesis imperfecta combined with gingival hyperplasia and progressive preeruptive crown resorption Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-26 15:58:48 +02:00 (CEST) Date last edited N/A

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