Global Variome shared LOVD

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

Phenotype #0000231555 Individual ID 00305708 Associated disease GSD Phenotype details ambulatory; no ventilation; MRI brain aspecific T2 hyperintensity in right thalamus Diagnosis/Initial late-onset Pompe disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD2 Age/Examination 15y (15 years) Age/Diagnosis 3y Age/Onset 7m 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 2020-07-01 13:40:43 +02:00 (CEST) Date last edited N/A

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