Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000125501 Individual ID 00152539 Associated disease MEB Phenotype details microcephaly, spastic tetraparesis, max. motor achievement head control, rounded forehead, thin lips, short neck, micrognathia, retinopathy, severe mental retardation, CPK 1576 UI/l Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal recessive Diagnosis/Definite MDDGA-3 Age/Examination 02y06m (2 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-02-02 20:19:48 +01:00 (CET) Date last edited N/A

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