Global Variome shared LOVD

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

Phenotype #0000000845 Individual ID 00001691 Associated disease HSD10MD Inheritance Familial Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Onset - Phenotype/Onset - Phenotype details ascertainment clinical presentation; developmental regression, ataxia, myoclonus, nystagmus, optic atrophy, retinopathy; biochemical phenotype typical for disease Enzyme/Activity MHBD activity 0.5 (Mean 1.4, SD 0.43) Protein - Age/Diagnosis 01y02m Owner name Division of Human Genetics, Innsbruck Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2010-04-26 11:18:02 +02:00 (CEST) Date last edited 2010-04-27 11:07:55 +02:00 (CEST)

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