Disease #00743 (LCCS3 (contracture syndrome, lethal, congenital, type 3 (LCCS-3)), OMIM:611369)

Global Variome shared LOVD

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Official abbreviation	LCCS3
Name	contracture syndrome, lethal, congenital, type 3 (LCCS-3)
OMIM ID	611369
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	PIP5K1C
Associated tissues	-
Disease features	severe joint contractures, muscle atrophy, respiratory insufficiency
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2023-08-06 21:38:11 +02:00 (CEST)

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