Phenotype #0000155279

Individual ID 00207500
Associated disease BVVLS1
Phenotype details visual impairment (HP:0000505); progressive hearing impairment (HP:0000365); no abnormality of the liver (-HP:0001392); no hepatic Wilson disease symptoms, liver biopsy normal; visits regular school
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite BVVLS
Age/Examination 10y (10 years)
Age/Diagnosis 05y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Gunnar Schmidt
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Gunnar Schmidt
Date created 2018-11-23 16:58:04 +01:00 (CET)
Date last edited 2022-12-16 19:18:59 +01:00 (CET)

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