Phenotype #0000125518

Individual ID 00152556
Associated disease MEB
Phenotype details CK 2300 IU/l; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), nocerebral atrophy (-HP:002509)
Diagnosis/Initial muscle-eye-brain disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite MDDGA-3
Age/Examination 05y (5 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2018-02-03 14:24:23 +01:00 (CET)
Date last edited 2018-02-03 14:26:04 +01:00 (CET)

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