Phenotype #0000346095

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457636
Associated disease	MTPD
Phenotype details	see paper; ..., 31d-deceased (severe infant respiratory distress syndrome, hypertrophic cardiomyopathy); newborn screening newborn screening LCHAD deficiency
Diagnosis/Initial	newborn screening LCHAD deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MTPD2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-15 13:11:45 +01:00 (CET)
Date last edited	N/A

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