Phenotype #0000229723

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00302642
Associated disease	MOCOD
Diagnosis/Initial	molybdenum cofactor deficiency
Diagnosis/Definite	MOCODB
Phenotype details	see paper; ..., healthy at birth; 3d-feeding difficulties, hypotonia, drug-resistant tonic seizures and clonic seizures, elevated sulfite and diminished uric acid in urine; 21d-died cardiorespiratory arrest
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-27 08:31:35 +02:00 (CEST)
Date last edited	2020-05-27 08:48:22 +02:00 (CEST)

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