Phenotype #0000188751

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00250187
Associated disease	MTDPS1
Phenotype details	Elevated thymidine, ptosis, PEO, peripheral neuropathy
Diagnosis/Initial	MNGIE
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MNGIE
Age/Examination	36y (36 years)
Age/Diagnosis	36y
Age/Onset	-
Phenotype/Onset	adolescence
Protein	Thymidine Phosphorylase
Owner name	Kimberly Kripps
Database submission license	No license selected
Created by	Kimberly Kripps
Date created	2019-08-02 20:43:21 +02:00 (CEST)
Date last edited	2019-08-05 08:54:37 +02:00 (CEST)

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