Phenotype #0000346066

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457606
Associated disease	?
Diagnosis/Initial	newborn screening,suspected disorder TFP complex
Diagnosis/Definite	MTPD1
Phenotype details	asymptomatic; no cardiomyopathy, no myopathy; no neuropathy; no retinopathy; no hypoglycemia
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-15 09:52:47 +01:00 (CET)
Date last edited	N/A

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