Disease #06482 (SEMDJL3 (Spondyloepimetaphyseal dysplasia with joint laxity, type 3), OMIM:618395)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	SEMDJL3
Name	Spondyloepimetaphyseal dysplasia with joint laxity, type 3
OMIM ID	618395
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	EXOC6B
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	N/A

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