Global Variome shared LOVD

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Phenotype #0000229662 Individual ID 00302581 Associated disease AADCD Phenotype details disease moderate severity; 15m-head control; turn over at 20 m; now could sit with assistance and grasp small things in a few minutes; EEG delta slow wave; MRI brain increased extracerebral space Diagnosis/Initial aromatic L-amino acid decarboxylase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite AADCD Age/Examination 7m 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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