Global Variome shared LOVD

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Phenotype #0000124552 Individual ID 00152209 Associated disease MEB Phenotype details MRI brain dilated ventricles, pachygyria, cerebellar cysts, never walked, axial hypotonia requiring molded seat, epilepsy, severe eye dysfunction (right blindness, left severe myopia); CPK 900 UI/l; not able to walk Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset 00y00m00d Phenotype/Onset macrocephalic, right microphthalmia, hypertrophy retina, left megalocornea, severe myopia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-04-23 15:06:48 +02:00 (CEST) Date last edited 2018-02-03 21:20:01 +01:00 (CET)

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