Phenotype #0000229664

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00302583
Associated disease	AADCD
Phenotype details	disease moderate severity; 12m-head control; 14m-turn over; 18m-sit; 8m-babble; 27m-walk; EEG normal; MRI brain increased extracerebral space
Diagnosis/Initial	aromatic L-amino acid decarboxylase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AADCD
Age/Examination	21m
Age/Diagnosis	-
Age/Onset	6m
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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