Disease #05877 (SMDAX (dysplasia, spondylometaphyseal, axial), OMIM:602271)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	SMDAX
Name	dysplasia, spondylometaphyseal, axial
OMIM ID	602271
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	C21orf2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2020-11-11 10:14:38 +01:00 (CET)
Date last edited	2024-09-25 10:44:28 +02:00 (CEST)

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