Disease #05216 (SDCHCN (cryohydrocytosis, stomatin-deficient, with neurologic defects (SDCHCN)), OMIM:608885)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	SDCHCN
Name	cryohydrocytosis, stomatin-deficient, with neurologic defects (SDCHCN)
OMIM ID	608885
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	SLC2A1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-01-17 16:42:48 +01:00 (CET)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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