Global Variome shared LOVD

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

Phenotype #0000352560 Individual ID 00467353 Associated disease NDD Diagnosis/Initial neurodevelopmental delay, dyspnea Diagnosis/Definite MADD Phenotype details fever, cough, palpitations, decreased achilles reflex, pneumonia, myocarditis, muscular hypotonia, hypothyroidism, decreased liver function, moderate obstructive ventilatory dysfunction Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-12 14:40:38 +02:00 (CEST) Date last edited N/A

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