Global Variome shared LOVD

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

Phenotype #0000229680 Individual ID 00302599 Associated disease AADCD Phenotype details severe, bedridden; EEG posterior temporal sharp; MRI brain normal Diagnosis/Initial aromatic L-amino acid decarboxylase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite AADCD Age/Examination 4m Age/Diagnosis - Age/Onset 3m 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 2020-05-26 11:47:46 +02:00 (CEST) Date last edited N/A

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