Global Variome shared LOVD

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

Phenotype #0000051190 Individual ID 00065053 Associated disease CCTRCT Phenotype details nuclear, lamellar cataract; developmental delay, spastic diplegia, cryptogenic neonatal liver cirrhosis Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-05-15 22:17:13 +02:00 (CEST) Date last edited N/A

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