Phenotype #0000124495

Individual ID 00152152
Associated disease MEB
Phenotype details -
Diagnosis/Initial muscle-eye-brain disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite MDDGA-3
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein severly reduced enzyme activity
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2006-08-13 19:38:12 +02:00 (CEST)
Date last edited 2018-02-03 22:03:00 +01:00 (CET)

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