Global Variome shared LOVD

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

Phenotype #0000236327 Individual ID 00311062 Associated disease ? Diagnosis/Initial - Diagnosis/Definite ERCC1 deficiency Phenotype details ocular photosensitivity, skin photosensitivity (HP:0000992), renal dysfunction, liver dysfunction (HP:0001410), intellectual disability (HP:0001249); 8y-orthotopic liver transplantation Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Martijn S. Luijsterburg Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-15 10:00:12 +02:00 (CEST) Date last edited N/A

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