Global Variome shared LOVD

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

Phenotype #0000230173 Individual ID 00303089 Associated disease HSD10MD Inheritance Familial, X-linked recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite HSD10D Age/Onset - Phenotype/Onset - Phenotype details suspected possible episodes of absence epilepsy, observed elevations liver transaminases, history of neonatal death sister and mother's new pregnancy; epilepsy not confirmed, cytomegalovirus infection explained transient hepatic abnormalities; 18m-asymptomatic, normal development Enzyme/Activity - Protein - Age/Diagnosis - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-05 19:13:24 +02:00 (CEST) Date last edited N/A

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