Phenotype #0000000840

Individual ID 00001686
Associated disease HSD10MD
Inheritance Unknown
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Onset -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; severe hypotonia, no development, cardiomyopathy; phenotype onset neonatal; biochemical phenotype typical for disease
Enzyme/Activity 30% residual MHBD activity
Protein -
Age/Diagnosis -
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck
Date created 2010-04-26 09:26:26 +02:00 (CEST)
Date last edited 2010-04-27 09:45:23 +02:00 (CEST)

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