Phenotype #0000340280

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451604
Associated disease	MYOCOZ
Diagnosis/Initial	myopathy
Diagnosis/Definite	-
Phenotype details	cytoplasmic bodies with a necklace distribution, ringbinden, pronounced vacuolization
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	30y?
Age/Onset	-
Phenotype/Onset	presented with frequent falls, delayed walking, axial weakness, CK 800
Owner name	Gianina Ravenscroft
Database submission license
Created by	Gianina Ravenscroft
Date created	2024-06-13 07:21:57 +02:00 (CEST)
Date last edited	2024-06-24 16:53:27 +02:00 (CEST)

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