Phenotype #0000142709

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00180315
Associated disease	PMD;HLD1
Phenotype details	severe connatal Pelizaeus-Merzbacher disease
Diagnosis/Initial	-
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	-
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	8m
Phenotype/Onset	-
Protein	-
Owner name	Jesus Molano Mateos
Database submission license
Created by	Johan den Dunnen
Date created	2018-09-04 21:41:19 +02:00 (CEST)
Date last edited	N/A

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