Phenotype #0000229683

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00302602
Associated disease	AADCD
Phenotype details	severe, bedridden; EEG 2-3.5 Hz slow wave; MRI brain normal
Diagnosis/Initial	aromatic L-amino acid decarboxylase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AADCD
Age/Examination	15m
Age/Diagnosis	-
Age/Onset	4m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
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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