Global Variome shared LOVD

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

Phenotype #0000000846 Individual ID 00001692 Associated disease HSD10MD Inheritance Familial Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Onset - Phenotype/Onset - Phenotype details ascertainment clinical presentation; psychomotor retardation, speech delay, hearing loss; phenotype onset first months of life; biochemical phenotype typical for disease Enzyme/Activity - Protein - Age/Diagnosis - 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 17:42:40 +02:00 (CEST) Date last edited 2010-05-02 14:51:31 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.