Phenotype #0000000837

Individual ID 00001683
Associated disease HSD10MD
Inheritance Isolated (sporadic)
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Onset 01y02m
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; developmental regression, dystonia, blindness, epilepsy
Enzyme/Activity -
Protein -
Age/Diagnosis 07y
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 2010-04-23 14:14:28 +02:00 (CEST)
Date last edited 2010-04-27 11:34:43 +02:00 (CEST)

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