Disease #07175 (BTHLM1C (myopathy, Bethlem, type 1C), OMIM:620726)

Global Variome shared LOVD

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

Official abbreviation	BTHLM1C
Name	myopathy, Bethlem, type 1C
OMIM ID	620726
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant, Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	COL6A3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2025-09-09 12:17:27 +02:00 (CEST)
Date last edited	N/A

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