Phenotype #0000229671

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00302590
Associated disease	AADCD
Phenotype details	severe, bedridden; MRI brain delayed myelination
Diagnosis/Initial	aromatic L-amino acid decarboxylase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AADCD
Age/Examination	8m
Age/Diagnosis	-
Age/Onset	3m15d
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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