Phenotype #0000142669

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00180274
Associated disease	PMD;HLD1
Phenotype details	-
Diagnosis/Initial	hypotonia and horizontal nystagmus
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	Pelizaeus-Merzbacher disease
Age/Examination	16y (16 years)
Age/Diagnosis	09y
Age/Onset	00y06m
Phenotype/Onset	-
Protein	-
Owner name	Jesus Molano Mateos
Database submission license	No license selected
Created by	Jesus Molano Mateos
Date created	2018-08-30 12:21:24 +02:00 (CEST)
Date last edited	2018-09-03 11:48:22 +02:00 (CEST)

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