Global Variome shared LOVD

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

Phenotype #0000000841 Individual ID 00001687 Associated disease HSD10MD Inheritance Familial Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Onset 01y07m Phenotype/Onset - Phenotype details ascertainment clinical presentation; developemtnal delay, plagiocephaly, fontal bosssing, short nose, dysplastic ears. 5th finger and toe clinodactyly, moderate syndactyly of 2nd, 3rd 4th fingers Enzyme/Activity - Protein - Age/Diagnosis 01y07m 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 09:57:49 +02:00 (CEST) Date last edited 2012-07-30 11:43:37 +02:00 (CEST)

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