Phenotype #0000124500

Individual ID 00152157
Associated disease MEB
Phenotype details see paper; ..., CPK 8019; intellectual disability (HP:0001249)
Diagnosis/Initial muscle-eye-brain disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite MDDGA-3
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein no 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 22:39:14 +02:00 (CEST)
Date last edited 2018-02-03 17:32:53 +01:00 (CET)

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