Phenotype #0000125519

Individual ID 00152557
Associated disease MEB
Phenotype details CK 1394 IU/l, cataracts; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), no brainstem hypoplasia (-HP:0002365), cortical dysplasia (HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864)
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 14:28:22 +01:00 (CET)
Date last edited N/A

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