Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 International 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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