Phenotype #0000124536

Individual ID 00152193
Associated disease MEB
Phenotype details brain MRI changes; CPK 1200; moderate intellectual disability (HP:0002342); onset neonatal; able to sit with support
Diagnosis/Initial muscle-eye-brain disease
Inheritance Isolated (sporadic)
Diagnosis/Definite MDDGA-3
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Rosário dos Santos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2008-08-14 16:36:26 +02:00 (CEST)
Date last edited 2012-03-10 10:40:46 +01:00 (CET)

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