Phenotype #0000229663

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00302582
Associated disease	AADCD
Phenotype details	disease moderate severity; 10m-head control; 19m-turn over; 19m-sit; now babble; EEG sharp slow wave ; MRI brain delayed myelination
Diagnosis/Initial	aromatic L-amino acid decarboxylase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AADCD
Age/Examination	12m
Age/Diagnosis	-
Age/Onset	5m
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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