Disease #07176 (BTHLM1B (myopathy, Bethlem, type 1B), OMIM:620725)

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	BTHLM1B
Name	myopathy, Bethlem, type 1B
OMIM ID	620725
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	COL6A2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2025-09-09 12:20:39 +02:00 (CEST)
Date last edited	N/A

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