Phenotype #0000082426

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00104494
Associated disease	MYOP
Phenotype details	congenital hypotonia and weakness with sparing of ocular muscles, prominent neck weakness, scoliosis, nocturnal BiPAP support.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Tom Winder
Database submission license	No license selected
Created by	Tom Winder
Date created	2014-09-25 20:54:58 +02:00 (CEST)
Date last edited	2017-05-12 14:47:03 +02:00 (CEST)

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