Global Variome shared LOVD

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

Phenotype #0000279284 Individual ID 00385489 Associated disease - Phenotype details - Diagnosis/Initial albinism (oculocutaneous); developmental delay; epileptic encephalopathy Inheritance Familial, autosomal recessive Diagnosis/Definite oculocutaneous albinism Age/Examination - Age/Diagnosis - Age/Onset <1y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-12 17:40:23 +02:00 (CEST) Date last edited N/A

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