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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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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